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Sample records for griscelli syndrome gs

  1. Griscelli syndrome

    Directory of Open Access Journals (Sweden)

    Kumar T

    2006-01-01

    Full Text Available Partial albinism with immunodeficiency is a rare and fatal immunologic disorder characterized by pigmentary dilution and variable cellular immunodeficiency. It was initially described in 1978. Primary abnormalities included silvery grayish sheen to the hair, large pigment agglomerations in hair shafts and an abundance of mature melanosomes in melanocytes, with reduced pigmentation of adjacent keratinocytes. We describe a child with Griscelli syndrome who presented with hepatitis, pancytopenia and silvery hair. The diagnosis was confirmed by microscopic skin and hair examination.

  2. Griscelli syndrome type-3

    Directory of Open Access Journals (Sweden)

    Bela J Shah

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment, and abnormal accumulation of melanosomes in melanocytes. GS type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 GS and usually require no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment plays a crucial role in patient's survival. The characteristic phenotypic appearance, especially the pigment dilution of the patient's hair, is emphasized here.

  3. Griscelli Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Seyed Ebrahim MANSOURI NEJAD

    2014-12-01

    Full Text Available How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akhondian J, BeiraghiToosi M, Eslamieh H. Griscelli Syndrome: A Case Report. Iran J Child Neurol. 2014 Autumn;8(4: 72-75.ObjectiveGriscelli syndrome (GS is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.ReferencesKharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss? Dermatol Online J 2007 1;13(2:17.Sheela SR, Latha M, Susy JI. Griscelli syndrome: Rab 27a mutation. Indian Pediatrics 2004; 41:944-947.González Carretero P, Noguera Julian A, Ricart Campos S, Fortuny Guasch C, Martorell Sampol L. Griscelli-Prunieras syndrome: report of two cases. An Pediatr (Barc 2009 ; 70(2:164-7.Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M, Pac M, Zegadlo-Mylik M, et al. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. Viral Immunol 2011 Dec;24(6:471-3.Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol 2012 Oct;34(7:541-4.Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi Ch. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. Int J Trichology 2011; 3(2:107-11.Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Silvery grey hair: clue to diagnose immunodeficiency. Int J Trichology 2012;4(2:83-5.Mahalingashetti PB, Krishnappa MH, Kalyan PS

  4. GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    B.Sh. Shamsian MD

    2009-01-01

    Full Text Available Abstract:Griscelli syndrome (GS is a rare disease first described in 1978. It is inherited in autosomal recessive pattern. This disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement & uncontrolled phases of macrophage & lymphocyte activation.We report a 5 months Old Iranian girl presenting with silver-gray hair,eyelashes and eyebrows, hepatosplenomegaly, pancytopenia, hemophagocytosis and progressive neurologic deterioration. Griscelli syndrome can be suggested according to her symptoms. The chemotherapy was not effective for her and she died due to multi organ failure.Key words:Griscelli syndrome, Hemophagocytosis, Albinism.

  5. Oral and dental findings of griscelli syndrome type 3

    Directory of Open Access Journals (Sweden)

    Ozlem Marti Akgun

    2015-09-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000: 164-167

  6. Griscelli syndrome type 2: A rare and fatal syndrome in a South Indian boy

    Directory of Open Access Journals (Sweden)

    R Rajyalakshmi

    2016-01-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, RAB27A (GS2, and MLPH (GS3 genes, characterized by a common feature, partial albinism. The common variant of three, GS type 2, in addition, shows primary immunodeficiency which leads to recurrent infections and hemophagocytic lymphohistiocytosis. We, herewith, describe a case of GS type 2, in a 4-year-old male child who presented with chronic and recurrent fever, lymphadenopathy, hepatosplenomegaly, and secondary neurological deterioration; highlighting the cytological and histopathological features of lymph nodes. Hair shaft examination of the child confirmed the diagnosis.

  7. Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

    DEFF Research Database (Denmark)

    Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

    2010-01-01

    Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndrom...

  8. GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE

    Directory of Open Access Journals (Sweden)

    B.Sh. Shamsian

    2007-02-01

    Full Text Available Griscelli syndrome (GS is a rare disease first described in 1978. It isinherited in autosomal recessive pattern. This disease is characterizedby partial albinism, pigmentation dilution, cellular immunodeficiency,neurological involvement & uncontrolled phases of macrophage &lymphocyte activation.We report a 5 months Old Iranian girl presenting with silver-gray hair,eyelashes and eyebrows, hepatosplenomegaly, pancytopenia,hemophagocytosis and progressive neurologic deterioration. Griscellisyndrome can be suggested according to her symptoms. Thechemotherapy was not effective for her and she died due to multiorgan failure.

  9. Griscelli syndrome: A case report of Reye′s syndrome and atopic dermatitis history

    Directory of Open Access Journals (Sweden)

    Kirzioglu Z

    2008-12-01

    Full Text Available Griscelli syndrome (GS is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair, with the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Sixty cases of GS have been reported in the literature, but we could find no description of its oro-dental symptoms. Reye′s syndrome (RS is characterized by acute noninflammatory encephalopathy and renal and hepatic failure, while atopic dermatitis (AD is a skin disorder with an immunologic basis. The aim of this paper is to describe the oro-dental and physical findings in a girl who had been diagnosed with GS at 3.5 years of age; she also had AD as well as a history of RS at infancy. We discuss the possible relationship between the three syndromes.

  10. Griscelli Syndrome Type 2; A Pediatric Case with Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Parviz Tabatabaie

    2007-09-01

    Full Text Available A 3.5 month-old girl was admitted with silvery gray hair, light  colored skin, recurrent diarrhea, chest infections, hepatosplenomegaly, episodes of pancytopenia, and hemophagocytosis in the bone marrow. Light microscopy of hair showed characteristic large and irregular clumps of melanin in the middle of hair shaft. Peripheral blood smear examination did not show giant granules in granulocytes. On the basis of these clinical and laboratory findings, Griscelli syndrome was diagnosed. The child succumbed to infection during an accelerated phase of the disease.

  11. Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation

    DEFF Research Database (Denmark)

    Born, Alfred Peter; Müller, Klaus; Marquart, Hanne Vibeke;

    2010-01-01

    Griscelli syndrome is an autosomal recessive disorder characterized by pigmentary dilution and is occasionally associated with a hemophagocytic syndrome (type 2). We present a 13-year-old girl with Griscelli syndrome type 2, who developed a hemophagocytic syndrome along with marked muscle weakness...... and elevated plasma creatine kinase. Muscle biopsy showed massive inflammatory changes in some fascicles, while other fascicles were relatively spared. Clinical symptoms and biopsy changes resolved after immunosuppression and allogeneic hematopoietic cell transplantation. Our results suggest that muscle...

  12. Griscelli syndrome type 2 – A case report and clinical approach to silver blonde hair

    Directory of Open Access Journals (Sweden)

    Sana Durrani

    2016-04-01

    Full Text Available Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair, hemophagocytic lymphohistiocytosis and characteristic light microscopy findings in scalp hair shaft seen as large irregular clumps of pigment as opposed to the evenly distributed pigment along the hair shaft without any clumps. We describe a boy with classic features of Griscelli syndrome type 2 from Pakistan in whom a homozygous mutation in the RAB27A gene was identified that showed a single base substitution (c.598C>T predicted to cause premature protein termination (p.Arg200∗. We also present a clinical approach to silver blonde hair differentiating between the Griscelli syndrome types 1, 2 and 3, Chediak Hegashi Syndrome and Elejalde Syndrome.

  13. Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy

    DEFF Research Database (Denmark)

    Trottestam, Helena; Beutel, Karin; Meeths, Marie;

    2009-01-01

    be used for these syndromes. PROCEDURE: In the HLH-94/HLH-2004 treatment study registries, we evaluated all patients with GS2 (n = 5), XLP (n = 2) or CHS (n = 2) treated between 1994 and 2004. RESULTS: All patients responded to the therapy, and all are alive but one (suffering from CHS), with a mean...... follow-up of 5.6 years. All GS2, one XLP and one CHS patient underwent hematopoietic stem cell transplant. Mean follow-up post transplant was 6.0 years. Six of the seven transplanted children achieved non-active disease status at the time for SCT. Neurological sequelae were reported in all, except...

  14. Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes Contribuição do estudo dos cabelos com microscopia de luz polarizada ao diagnóstico diferencial das síndromes de Chédiak-Higashi and Grisceli-Prunieras

    Directory of Open Access Journals (Sweden)

    Neusa Y.S. Valente

    2006-08-01

    Full Text Available PURPOSE: To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD: Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS: Under light microscopy, hairs from Chédiak-Higashi patients presented evenly distributed, regular melanin granules, larger than those seen in normal hairs. Under polarized light microscopy, shafts exhibited a bright and polychromatic refringence appearance. In contrast, hair from Griscelli-Prunieras patients, under light microscopy, exhibited bigger and irregular melanin granules, distributed mainly near the medulla. Under polarized light microscopy, shafts appeared monotonously white. CONCLUSION: Light microscopic examination of hair shafts of patients with Chédiak-Higashi or Griscelli-Prunieras syndrome reveals subtle differences that are useful in identifying both disorders, but not in distinguishing between them. We provide evidence that polarized light microscopy of hair shafts, an approach that has not been previously described, aids in differentiating between these syndromes. We propose hair study by polarized light microscopy as a helpful complementary diagnostic method for differential diagnosis between CHS and GPS, especially when the more sophisticated molecular studies are not available.OBJETIVO: Estudar e comparar o aspecto dos cabelos de portadores das síndromes de Chédiak-Higashi e Griscelli-Prunieras, tanto na microscopia óptica convencional quanto com luz polarizada. MÉTODO: Cabelos de dois doentes portadores da síndrome de Chédiak-Higashi e de dois portadores da síndrome de Griscelli-Prunieras foram obtidos e estudados tanto à microscopia convencional quanto com luz polarizada. RESULTADOS: Na microscopia óptica convencional, os cabelos dos doentes portadores da síndrome de Chédiak-Higashi mostraram

  15. Genetics Home Reference: Griscelli syndrome

    Science.gov (United States)

    ... genes are found in pigment-producing cells called melanocytes . Within these cells, the proteins work together to ... pigmentation). Melanosomes are formed near the center of melanocytes, but they must be transported to the outer ...

  16. Syndromic albinism: a review of genetics and phenotypes.

    Science.gov (United States)

    Scheinfeld, Noah S

    2003-12-01

    There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES) and Cross-McKusick-Breen Syndrome (CMBS). In the last several years the genetic defects underlying some of these syndromes have been described. HPS is related to 7 genes in humans. GS is related to 3 genes: MYOVA, Rab-27A, and melanophilin (Mlph). CHS is related to one gene: LYST. The genetic defects in ES and CMBS are yet to be defined. Syndromic forms of albinism are associated with defects in the packaging of melanin and other cellular proteins. As such they are distinct from oculocutaneous albinism, which is associated with defects in the production of melanin (e.g., TRP1, P gene, and tyrosinase).

  17. A RARE CASE OF GRISCELLI’S SYNDROME WITH REVIEW OF LITERATURE

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    Narayan Reddy

    2014-06-01

    Full Text Available INTRODUCTION: Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism and immunodeficiency. The characteristic features include silver hair due to clumped melanosomes in hair shaft. Other features include hepatospleenomegaly, hepatitis, pancytopenia and immune abnormalities. CASE REPORT: A seven years old male child presented with partial albinic features and history of recurrent respiratory tract infection. The child had fever since 2months along with hepatospleenomegaly, pancytopenia and thrombocytopenic purpura. These rare clinical manifestations were diagnosed as GS which was confirmed by bone marrow biopsy and light microscopy of hair shaft. The mean patient age of survival is 5years. As early diagnosis can improve the outcome in such cases, a finding of partial albinism should alert the diagnosis of Griscelli’s syndrome. CONCLUSION: We report a rare case of GS with characteristic manifestation surviving beyond the mean age of reported survival.

  18. Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.

    Science.gov (United States)

    Ishaq, Mazhar; Niazi, Muhammad Khizar; Khan, Muhammad Saim; Nadeem, Yasser

    2015-04-01

    Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albinism which is a subtype of OCA is associated with systemic immunodeficiency disorders like Chediak Higashi (CHS), Griscelli (GS) and Hermansky-Pudlak (HPS) syndromes. A7 years boy was labeled initially as a case of Hermansky Pudlak syndrome at the age of 01 year. He as well as his 4 years old younger brother when examined in detail along with audiological investigations were diagnosed as a rare presentation of both Hermansky Pudlak and Waardenburg's syndrome.

  19. Intragenic suppression of a constitutively active allele of Gsα associated with McCune-Albright syndrome.

    Science.gov (United States)

    Tobar-Rubin, Raquel; Sultan, Dahlia; Janevska, Daniela; Turcic, Kyle; Carroll, Julie; Ooms, Laura; Pals-Rylaarsdam, Robin

    2013-04-01

    McCune-Albright syndrome (MAS) is a human genetic disorder caused by a mutation that constitutively activates the G(s)α subunit by abolishing GTP hydrolysis. MAS patients suffer from a range of endocrinopathies as well as polyostotic fibrous dysplasia of bone. We previously identified an intragenic suppressor of the MAS mutation in a yeast system, which substituted two residues in the GTP-binding site of Gpa1: L318P and D319V to suppress the constitutive activity of an R297H mutation, corresponding to the human F222P, D223V, and R201H mutations respectively. To extend these studies, the human GNAS gene was subjected to site-directed mutagenesis. Constructs expressing the MAS mutation (R201H), the MAS mutation plus the mutations homologous to the yeast suppressors (R201H, F222P/D223V), or the yeast suppressor mutation alone (F222P/D223V) were transfected into HEK293 cells, and basal and receptor-stimulated cAMP levels were measured. Expression of R201H increased the basal cAMP levels and decreased the EC(50) for hormone-stimulated cAMP production. These effects were dependent on the amount of R201H protein expressed. R201H, F222P/D223V abolished the constitutive activity of the MAS mutation and caused responses to hormone that were not different from those measured in cells expressing WT G(s)α. Interestingly, F222P/D223V behaved similar to R201H in causing increases in basal cAMP production, thus demonstrating constitutive activity. Substitution of another acidic (E) or polar (N, T, and G) amino acid at position 223 caused no suppression of R201H activity, while substitution of a second nonpolar amino acid (A) at this position partially suppressed, and the larger polar I residue completely suppressed the effects of R201H.

  20. Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation

    DEFF Research Database (Denmark)

    Born, Alfred Peter; Müller, Klaus; Marquart, Hanne Vibeke;

    2010-01-01

    and elevated plasma creatine kinase. Muscle biopsy showed massive inflammatory changes in some fascicles, while other fascicles were relatively spared. Clinical symptoms and biopsy changes resolved after immunosuppression and allogeneic hematopoietic cell transplantation. Our results suggest that muscle...

  1. O modelo GS-RH

    OpenAIRE

    Mendes, Maria de Lourdes de Melo Salmito

    1997-01-01

    Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro Tecnologico. Programa de Pós-Graduação em Engenharia de Produção Neste trabalho é proposto um modelo de Jogo de Empresas cujo desenvolvimento tem por base a integração dos jogos GS-ENE e LÍDER, desenvolvidos e implementados pelo LJE (Laboratório de Jogos de Empresas) da Universidade Federal de Santa Catarina. A metodologia utilizada é a observação direta e a análise de conteúdo quanto à estrutura e à dinâmica básica do...

  2. Focal segmental glomerulosclerosis in association with Gitelman syndrome.

    Science.gov (United States)

    Ceri, Mevlut; Unverdi, Selman; Altay, Mustafa; Unverdi, Hatice; Kurultak, Ilhan; Yılmaz, Rahmi; Ensari, Arzu; Duranay, Murat

    2011-09-01

    Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Glomerulonephritis associated with GS is rarely documented in the literature. We present an adult patient with GS whose renal biopsy revealed focal segmental glomerulosclerosis.

  3. A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

    DEFF Research Database (Denmark)

    Westbroek, W.; Tuchman, M.; Tinloy, B.

    2008-01-01

    steps within cells. In melanocytes, the GTP-bound form of Rab27A associates with the membranes of mature fully-pigmented melanosomes through its geranylgeranyl group. Once attached, Rab27A recruits the downstream effector Melanophilin (Mlph) and the actin-dependent motor protein Myosin Va (Myo...... GSII patient. Laser scanning confocal microscopy showed that the G43S mutation, which is located in the highly conserved switch I region of Rab27A, induces perinuclear localization of melanosomes in normal melanocytes, and fails to restore melanosomes to the actin-rich periphery in GSII melanocytes. Co...

  4. The Beneficial Effects of ETS-GS, a Novel Vitamin E Derivative, on a Rat Model of Crush Injury.

    Science.gov (United States)

    Nakagawa, Junichiro; Matsumoto, Naoya; Nakane, Yuko; Yamakawa, Kazuma; Yamada, Tomoki; Matsumoto, Hisatake; Shimazaki, Junya; Imamura, Yukio; Ogura, Hiroshi; Jin, Takashi; Shimazu, Takeshi

    2016-12-01

    Crush syndrome is a devastating condition leading to multiple organ failure. The mechanisms by which local traumatic injuries affect distant organs remain unknown. ETS-GS is a novel water-soluble, stable anti-oxidative agent composed of vitamin E derivative. Given that one of the main pathophysiological effects in crush syndrome is massive ischemia-reperfusion, reactive oxygen species (ROS) generated from the injured extremities would be systemically involved in distant organ damage. We investigated whether ETS-GS could suppress inflammatory response and improve mortality in a rat model of crush injury. Crush injury was induced by compression of bilateral hindlimbs for 6 h followed by release of compression. Seven-day survival was significantly improved by ETS-GS treatment. To estimate anti-oxidative and anti-inflammatory effects of ETS-GS, serum was collected 6 and 20 h after the injury. ETS-GS treatment significantly dampened the up-regulation of malondialdehyde and reduction of superoxide dismutase in the serum, which were induced by crush injury. Serum levels of interleukin 6 and high mobility group box 1 were significantly decreased in the ETS-GS group compared with those in the control group. Lung damage shown by hematoxylin-eosin staining at 20 h after the injury was ameliorated by the treatment. Ex vivo imaging confirmed that ETS-GS treatment reduced ROS generation in both the lung and the muscle following crush injury. The administration of ETS-GS could suppress ROS generation, systemic inflammation, and the subsequent organ damage, thus improving survival in a rat model of crush injury. These findings suggest that ETS-GS can become a novel therapeutic agent against crush injury.

  5. 掀起GS1的盖头来(三)——GS1基础知识介绍%Unveil Curiosity of GS1 (Ⅲ)——The Basic Knowledge of GS1

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    前两期本刊已经连续对GS1系统进行了详细地介绍,本期将结合GS1系统自身特点,通过GS1系统在行业中的具体应用案例,为您展示GS1系统的应用流程及应用价值。

  6. Liquid helium centrifugal pump characteristics from 80 g/s to 1200 g/s

    CERN Document Server

    Pengo, R; Junker, S

    2010-01-01

    The large amount of data collected from three different centrifugal liquid helium pumps tested, namely with 80, 600 and 1200 g/s nominal mass flow are reviewed. The data include the analysis of the characteristic curves, their total efficiencies, their Net Positive Suction Head (NPSH) and the slip factor. The 1200 g/s pumps tested are of the full emission type, with curved blades, whilst the other pumps have straight blades. The pumps were also tested at different rotary speeds. The pumps were manufactured by Barber \\& Nichols (Denver, USA). (C) 2009 Elsevier Ltd. All rights reserved.

  7. Behind the scenes of GS: preventing and curing - the GS-SE group

    CERN Multimedia

    CERN, GS-SE

    2013-01-01

    With over 3,000 CERN personnel and more than 300 visitors on the site, CERN’s infrastructure takes a real hammering every day of the year. Fortunately, the GS-SE Group is on the watch… Here, like everywhere else, nothing stays shiny and new for very long. That’s why it’s important to carry out regular, even daily, maintenance of buildings, equipment, pipes and roads which every single day see thousands of CERN personnel and visitors passing by. The team responsible for this weighty task is part of the GS-SE Group.

  8. Behind the scenes of GS: shared mobility

    CERN Multimedia

    Corinne Pralavorio

    2014-01-01

    The GS-IS team responsible for mobility is working on the problematic equation of improving transport with a growing number of people on site.   Congested car parks and sites that are far apart mean that going from one place to another at CERN often requires patience. Transport is major a concern not only for people working at the Organization, but also those in charge of the road infrastructure. The 120-hectare Meyrin site and the distance between the various sites mean that efficient modes of transport are essential. The growing number of people on site and the increasingly congested car parks have made the problem even trickier. Over the past five years, the GS-IS group has launched several initiatives to facilitate mobility on site without proportionately increasing CERN’s fleet of vehicles. Sharing is the only solution! The shuttle service has been reinforced:  since 2010, four regular routes have been set up as well as a service for operators working shifts during t...

  9. Behind the scenes of GS: preventing and curing - the GS-SE group (VERSION FR)

    CERN Multimedia

    CERN, GS-SE

    2013-01-01

    Avec, chaque jour, plus de 3000 Cernois sur le site et plus de 300 visiteurs, le CERN et ses infrastructures en voient des vertes et des pas mûres. Heureusement, le groupe GS-SE veille au grain… Ici comme partout ailleurs, rien ne reste jamais neuf bien longtemps. D’où l’importance d’entretenir régulièrement, pour ne pas dire « quotidiennement », les bâtiments, équipements, canalisations, routes, qui voient passer, jour après jour, des milliers de Cernois et de visiteurs. Au CERN, l’équipe en charge de cette lourde tâche fait partie du groupe GS-SE.

  10. The Forgotten Syndrome?

    DEFF Research Database (Denmark)

    Jensen, Pernille Vita Fooken; Hansen, Michael Stormly; Møller, Martin Nue

    2016-01-01

    BACKGROUND: Gradenigo's Syndrome (GS) is defined as the clinical triad of acute otitis media, ipsilateral sixth nerve palsy, and pain in the distribution of the first and the second branches of the fifth nerve. The purpose of this study is to review the literature and report 4 cases of GS. METHODS...

  11. Behind the scenes of GS: Sweet dreams!

    CERN Multimedia

    Anaïs Schaeffer

    2014-01-01

    The CERN Hostel is located in the heart of the Meyrin site and provides the Organization’s many users with a comfortable and peaceful place to stay. The services offered by the Hostel, which is managed by the GS-IS Group, have seen many changes over the years.   The first CERN Hostel (Building 38) was built in 1982 in response to an increasing demand for accommodation, which until then had been met by a handful of converted bedrooms in Building 5 and, since 1974, by 81 additional bedrooms made available to CERN through an agreement with the Foyer Schumann in Saint-Genis-Pouilly. Let’s not even mention the fact that the barracks now occupied by the CERN clubs used to be dormitories… The Hostel was gradually extended, particularly in 1995 with the construction of Building 39, and then in 2007, when Building 41 was added, resulting in a total of 413 rooms (495 beds) today. In addition, a new agreement now gives users access to 151 low-cost rooms at the Foyer Schuma...

  12. Behind the scenes of GS: Open Sesame!

    CERN Multimedia

    Anaïs Schaeffer

    2014-01-01

    The section in the GS-IS Group responsible for running the CERN Stores processes hundreds of orders per day, checks the quality of each and every product and is responsible for warehousing thousands of items available in a richly-stocked catalogue.   Sprawling across several buildings (73, 128 and 129), a total surface area of 3640 m2, and providing 28,300 cubic metres of storage space, the equivalent of 330 semi-trailers, the CERN stores are a veritable treasure trove! The products on offer range from office stationery and computer hardware to fire extinguishers, cables, steel and chemicals. The new (above) and old storage system for the CERN stores. The CERN Stores catalogue contains nearly 48,000 referenced items, 12,000 of which are available on site. Goods arrive at either Building 194 (Meyrin) or Building 904 (Prévessin) and are then forwarded to the central stores in Building 73. “Every item that arrives here undergoes a strict quality control,” says M...

  13. Behind the scenes of GS: precious stones

    CERN Document Server

    Anaïs Schaeffer

    2014-01-01

    Since the laying of the foundation stone for the Synchrocyclotron in June 1954, CERN has been expanding constantly to reach a current constructed surface area of 580,000 m2 covered by some 650 buildings (just 125 of which account for 70% of this area).   This year, while CERN’s 60th anniversary is an important milestone in the Laboratory’s history, it also highlights another reality: CERN is a collection of ageing buildings, no less than 60% of which are more than 40 years old. “Of the 580,000 m2 of buildings, around 52,000 m2 are nearing the end of their useful life and 140,000 m2 are in need of extensive renovations,” says Natacha Lopez, GS-SE-PO Section Leader. “Of course, we’ve already started several renovation projects, but it's a huge challenge as we have to renovate buildings constructed in the 1960s and 70s while complying with modern standards, which are very different from those that were in force when they were bu...

  14. Segregation of the Qb-SNAREs GS27 and GS28 into Golgi vesicles regulates intra-Golgi transport.

    Science.gov (United States)

    Fusella, Aurora; Micaroni, Massimo; Di Giandomenico, Daniele; Mironov, Alexandre A; Beznoussenko, Galina V

    2013-05-01

    The Golgi apparatus is the main glycosylation and sorting station along the secretory pathway. Its structure includes the Golgi vesicles, which are depleted of anterograde cargo, and also of at least some Golgi-resident proteins. The role of Golgi vesicles remains unclear. Here, we show that Golgi vesicles are enriched in the Qb-SNAREs GS27 (membrin) and GS28 (GOS-28), and depleted of nucleotide sugar transporters. A block of intra-Golgi transport leads to accumulation of Golgi vesicles and partitioning of GS27 and GS28 into these vesicles. Conversely, active intra-Golgi transport induces fusion of these vesicles with the Golgi cisternae, delivering GS27 and GS28 to these cisternae. In an in vitro assay based on a donor compartment that lacks UDP-galactose translocase (a sugar transporter), the segregation of Golgi vesicles from isolated Golgi membranes inhibits intra-Golgi transport; re-addition of isolated Golgi vesicles devoid of UDP-galactose translocase obtained from normal cells restores intra-Golgi transport. We conclude that this activity is due to the presence of GS27 and GS28 in the Golgi vesicles, rather than the sugar transporter. Furthermore, there is an inverse correlation between the number of Golgi vesicles and the number of inter-cisternal connections under different experimental conditions. Finally, a rapid block of the formation of vesicles via COPI through degradation of ϵCOP accelerates the cis-to-trans delivery of VSVG. These data suggest that Golgi vesicles, presumably with COPI, serve to inhibit intra-Golgi transport by the extraction of GS27 and GS28 from the Golgi cisternae, which blocks the formation of inter-cisternal connections.

  15. Affine Fullerene C60 in a GS-Quasigroup

    Directory of Open Access Journals (Sweden)

    Vladimir Volenec

    2014-01-01

    Full Text Available It will be shown that the affine fullerene C60, which is defined as an affine image of buckminsterfullerene C60, can be obtained only by means of the golden section. The concept of the affine fullerene C60 will be constructed in a general GS-quasigroup using the statements about the relationships between affine regular pentagons and affine regular hexagons. The geometrical interpretation of all discovered relations in a general GS-quasigroup will be given in the GS-quasigroup C(1/2(1+5.

  16. Evaluation of Two Guralp Preamplifiers for GS13 Seismometer Application.

    Energy Technology Data Exchange (ETDEWEB)

    Merchant, Bion J.

    2017-09-01

    Sandia National Laboratories has tested and evaluated a new preamplifier, the Guralp Preamplifier for GS13, manufactured by Guralp. These preamplifiers are used to interface between Guralp digitizers and Geotech GS13 Seismometers. The purpose of the preamplifier evaluation was to measure the performance characteristics in such areas as power consumption, input impedance, sensitivity, full scale, self-noise, dynamic range, system noise, response, passband, and timing. The Guralp GS13 Preamplifiers are being evaluated for potential use in the International Monitoring System (IMS) of the Comprehensive Nuclear Test-Ban-Treaty Organization (CTBTO).

  17. Gitelman syndrome

    Directory of Open Access Journals (Sweden)

    Levtchenko Elena N

    2008-07-01

    Full Text Available Abstract Gitelman syndrome (GS, also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Transient periods of muscle weakness and tetany, sometimes accompanied by abdominal pain, vomiting and fever are often seen in GS patients. Paresthesias, especially in the face, frequently occur. Remarkably, some patients are completely asymptomatic except for the appearance at adult age of chondrocalcinosis that causes swelling, local heat, and tenderness over the affected joints. Blood pressure is lower than that in the general population. Sudden cardiac arrest has been reported occasionally. In general, growth is normal but can be delayed in those GS patients with severe hypokalemia and hypomagnesemia. GS is transmitted as an autosomal recessive trait. Mutations in the solute carrier family12, member 3 gene, SLC12A3, which encodes the thiazide-sensitive NaCl cotransporter (NCC, are found in the majority of GS patients. At present, more than 140 different NCC mutations throughout the whole protein have been identified. In a small minority of GS patients, mutations in the CLCNKB gene, encoding the chloride channel ClC-Kb have been identified. Diagnosis is based on the clinical symptoms and biochemical abnormalities (hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. Bartter syndrome (especially type III is the most important genetic disorder to consider in the differential diagnosis of GS. Genetic counseling is important. Antenatal diagnosis for GS

  18. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  19. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  20. Cardiac Effects of Attenuating Gsα - Dependent Signaling.

    Directory of Open Access Journals (Sweden)

    Marcus R Streit

    Full Text Available Inhibition of β-adrenergic signalling plays a key role in treatment of heart failure. Gsα is essential for β-adrenergic signal transduction. In order to reduce side-effects of beta-adrenergic inhibition diminishing β-adrenergic signalling in the heart at the level of Gsα is a promising option.We analyzed the influence of Gsα on regulation of myocardial function and development of cardiac hypertrophy, using a transgenic mouse model (C57BL6/J mice overexpressing a dominant negative Gsα-mutant under control of the α-MHC-promotor. Cardiac phenotype was characterized in vivo and in vitro and under acute and chronic β-adrenergic stimulation. At rest, Gsα-DN-mice showed bradycardia (602 ± 13 vs. 660 ± 17 bpm, p<0.05 and decreased dp/dtmax (5037 ± 546- vs. 6835 ± 505 mmHg/s, p = 0.02. No significant differences were found regarding ejection fraction, heart weight and cardiomyocyte size. β-blockade by propranolol revealed no baseline differences of hemodynamic parameters between wildtype and Gsα-DN-mice. Acute adrenergic stimulation resulted in decreased β-adrenergic responsiveness in Gsα-DN-mice. Under chronic adrenergic stimulation, wildtype mice developed myocardial hypertrophy associated with increase of LV/BW-ratio by 23% (4.4 ± 0.2 vs. 3.5 ± 0.1 mg/g, p<0.01 and cardiac myocyte size by 24% (14927 ± 442 px vs. 12013 ± 583 px, p<0.001. In contrast, both parameters were unchanged in Gsα-DN-mice after chronic isoproterenol stimulation.Overexpression of a dominant negative mutant of Gsα leads to decreased β-adrenergic responsiveness and is protective against isoproterenol-induced hypertrophy. Thus, Gsα-DN-mice provide novel insights into β-adrenergic signal transduction and its modulation in myocardial overload and failure.

  1. Gs signaling in osteoblasts and hematopoietic stem cells.

    Science.gov (United States)

    Kronenberg, Henry M

    2010-03-01

    The heterotrimeric G protein Gs is a major mediator of the actions of several G protein-coupled receptors that target cells of the osteoblast lineage. For this reason, we generated chimeric mice with normal host cells and cells derived from embryonic stem cells missing the gene encoding the alpha subunit of Gs. While the mutant cells contributed to cortical osteoblasts and to hematopoietic cells in the liver, the marrow space contained few if any osteoblasts or hematopoietic cells missing Gs. Subsequent studies using the Cre-lox approach to delete Gsalpha from early cells of the osteoblast lineage and from hematopoietic stem cells were performed. These studies demonstrated the crucial roles of Gsalpha in osteoblastic cells in regulating the differentiation of osteoblasts and in supporting B-cell development as well as the essential role for Gsalpha in hematopoietic stem cells in allowing the homing of these cells to the marrow.

  2. Behinds the scenes of GS: a DSO like no other

    CERN Multimedia

    Antonella Del Rosso

    2014-01-01

    At CERN, Departmental Safety Officers (DSOs) are responsible for making the members of their department aware of safety issues. They’re our first point of call every time a problem arises relating to environmental matters or the safety of people and installations. In GS, this role is even more crucial as the Department’s activities are scattered across the Laboratory and affect everyone.   As we have pointed out in our article series "Behind the scenes of GS”, the GS Department is responsible for the construction, renovation and maintenance of buildings and related technical infrastructures. The latter include heating and toilet facilities; detection and alarm systems; the management of the hotels, stores, stocks, shuttle services and mail; and the development of technical and administrative databases. The activities of the Medical Service and the Fire and Rescue Service also come under the umbrella of GS, as do the many other daily activities that are pa...

  3. Regulation of PDH, GS and insulin signalling in skeletal muscle

    DEFF Research Database (Denmark)

    Biensø, Rasmus Sjørup

    The aims of the present thesis were to investigate 1) The impact of physical inactivity on insulinstimulated Akt, TBC1D4 and GS regulation in human skeletal muscle, 2) The impact of exercise training on glucose-mediated regulation of PDH and GS in skeletal muscle in elderly men, 3) The impact...... of inflammation on resting and exercise-induced PDH regulation in human skeletal muscle and 4) The effect of IL-6 on PDH regulation in mouse skeletal muscle. Study I demonstrated that bed rest–induced insulin resistance was associated with reduced insulinstimulated GS activity and Akt signaling as well...... as decreased protein level of HKII and GLUT4 in skeletal muscle. Iαn addition, the ability of acute exercise to increase insulin-stimulated glucose extraction was maintained after 7 days of bed rest. However, acute exercise after bed rest did not fully normalize the ability of skeletal muscle to extract...

  4. Genetics Home Reference: Gitelman syndrome

    Science.gov (United States)

    ... Genetic Testing (1 link) Genetic Testing Registry: Familial hypokalemia-hypomagnesemia General Information from MedlinePlus (5 links) Diagnostic ... my area? Other Names for This Condition familial hypokalemia-hypomagnesemia Gitelman's syndrome GS hypokalemia-hypomagnesemia, primary renotubular, ...

  5. GS920系列剑杆织机

    Institute of Scientific and Technical Information of China (English)

    李小兰; 阎磊

    2008-01-01

    最近,意大利Smit公司推出新型GS920系列剑杆织机(GS920型机用于生产平面织物,GS920F型机用于生产毛圈织物,GS920T型机用于生产产业用织物)和JS900型喷气织机,这些先进的织机均根据Smit公司专有的“SMART”平台而设计。“SMART”平台是一种最新的、综合性的模块化设计理念,它包括所有Smit公司开发的项目(包括机械、电子和通信系统)以及先进的电子开口机构。920系列剑杆织机采用先进技术和Smit公司专有织造技术,从而提高了该类剑杆织机的多功能性和产量。

  6. MDM Redshift of the Host of ASASSN-17gs

    Science.gov (United States)

    Chornock, R.; Margutti, R.

    2017-06-01

    The optical transient ASASSN-17gs = AT2017egv (http://www.astronomy.ohio-state.edu/ assassin/transients.html, https://wis-tns.weizmann.ac.il/object/2017egv) was associated with the new Fermi LAT source J1544-0649 and a new, bright X-ray source Swift 154419.7-064915 by Ciprini et al. (ATel #10482).

  7. Behind the scenes of GS: the impact of IMPACT

    CERN Multimedia

    Katarina Anthony

    2014-01-01

    Carrying out a job at CERN can be a complicated task, with coordinators reaching across departments to manage personnel, ensure safety and minimise the impact of their activities on the rest of the Laboratory.  To help coordinators with this tough task, the GS Department developed IMPACT, the platform that, since 2011, has unified CERN's major experiment, accelerator and injector coordination tools.   When planning interventions both large and small, IMPACT (the Intervention Management Planning and Coordination Tool) is the go-to gizmo on every CERN coordinator's tool belt. "IMPACT is a central repository of activity requests that standardises the way work is declared at CERN," says Benoit Daudin, GS-AIS-PM Section Leader. "If you need to intervene in any of CERN's major facilities, you need to declare this work on IMPACT. The tool will analyse the job and see whose approval is required. This could simply b...

  8. Behind the scenes of GS: an eye for accuracy

    CERN Multimedia

    Anaïs Schaeffer

    2014-01-01

    The CERN sites are constantly evolving… with new buildings, extensions, redevelopment and renovation. The team in charge of geographical information in the GS Department measures and records even the smallest changes so that it can provide everyone at CERN with the most up-to-date plans possible.   The “Patrimony” team in the GS-SE-DOP Section is responsible for geographical information and has the job of updating all of the information relating to CERN's property, including the land made available to the Organization by Switzerland (110 hectares) and France (516 hectares), green spaces, buildings, underground structures, underground networks (gas, water, electricity, etc. – for which the "Patrimony” team works closely with numerous other groups and departments), car parks, roads… and much more. “Our team consists of seven surveyors and GIS specialists, who identify, define, measure, catalogue and pinpoi...

  9. Evaluation of Two Guralp Preamplifiers for GS21 Seismometer Application.

    Energy Technology Data Exchange (ETDEWEB)

    Merchant, Bion J. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Slad, George William [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2015-08-01

    Sandia National Laboratories has tested and evaluated two Guralp preamplifiers for use with a GS21 seismometer application. The two preamplifiers have a gain factor of 61.39. The purpose of the preamplifier evaluation was to determine a measured gain factor, transfer function, total harmonic distortion, self-noise, application passband, dynamic range, seismometer calibration pass-through, and to comment on any issues encountered during the evaluation. The test results included in this report were in response to static, tonal, and dynamic input signals. The Guralp GS21 preamplifiers are being evaluated for potential use in the International Monitoring System (IMS) of the Comprehensive Nuclear Test-Ban-Treaty Organization (CTBTO). Test methodologies used were based on IEEE Standards 1057 for Digitizing Waveform Recorders and 1241 for Analog to Digital Converters

  10. Characterization of a glutamine synthetase gene DvGS2 from Dunaliella viridis and biochemical identification of DvGS2-transgenic Arabidopsis thaliana.

    Science.gov (United States)

    Zhu, Chenguang; Fan, Qianlan; Wang, Wei; Shen, Chunlei; Meng, Xiangzong; Tang, Yuanping; Mei, Bing; Xu, Zhengkai; Song, Rentao

    2014-02-25

    The salt-tolerant green alga Dunaliella has remarkable capability to survive in some extreme environments such as nitrogen starvation, which makes Dunaliella be a proper model for mining novel genes on nitrogen uptake or assimilation. In this study, a glutamine synthetase (GS) gene DvGS2 with amino acid identity of 72% to other homologous GS proteins, was isolated and characterized from Dunaliella viridis. Phylogenetic comparison with other GSs revealed that DvGS2 occupied an independent phylogenetic position. Expressional analysis in D. viridis cells under nitrogen starvation confirmed that DvGS2 increased its mRNA level in 12h. Subcellular localization study and functional analysis in a GS-deficient Escherichia coli mutant proved that DvGS2 was a chloroplastic and functional GS enzyme. In order to investigate the potential application of DvGS2 in higher plants, the transgenic studies of DvGS2 in Arabidopsis thaliana were carried out. Results showed that the transgenic lines expressed the DvGS2 gene and demonstrated obviously enhanced root length (29%), fresh weight (40%-48% at two concentrations of nitrate supplies), stem length (21%), leaf size (39%) and silique number (44%) in contrast with the wild-type Arabidopsis. Furthermore, the transgenic lines had higher total nitrogen content (35%-43%), total GS activity (39%-45%) and soluble protein concentration (23%-24%) than the wild type. These results indicated that the overexpression of DvGS2 in A. thaliana resulted in higher biomass and the improvement of the host's nitrogen use efficiency.

  11. Building a scientific data grid with DiGS.

    Science.gov (United States)

    Beckett, Mark G; Allton, Chris R; Davies, Christine T H; Davis, Ilan; Flynn, Jonathan M; Grant, Eilidh J; Hamilton, Russell S; Irving, Alan C; Kenway, R D; Ostrowski, Radoslaw H; Perry, James T; Swedlow, Jason R; Trew, Arthur

    2009-06-28

    We provide an insight into the challenge of building and supporting a scientific data infrastructure with reference to our experience working with scientists from computational particle physics and molecular biology. We illustrate how, with modern high-performance computing resources, even small scientific groups can generate huge volumes (petabytes) of valuable scientific data and explain how grid technology can be used to manage, publish, share and curate these data. We describe the DiGS software application, which we have developed to meet the needs of smaller communities and we have highlighted the key elements of its functionality.

  12. In vitro functional characterization of feline IgGs.

    Science.gov (United States)

    Strietzel, Catherine J; Bergeron, Lisa M; Oliphant, Theodore; Mutchler, Veronica T; Choromanski, Leszek J; Bainbridge, Graeme

    2014-04-15

    Very little is known about the functional properties of feline IgGs. Here we report the in vitro characterization of cloned feline IgGs. Rapid amplification of cDNA ends (RACE) and full-length PCR of cat splenic cDNA were used to identify feline sequences encoding IgG heavy chain constant regions (IGHC). Two of the sequences are possibly allelic and have been previously reported in the literature as the only feline IgG, IgG1. Although we confirmed these alleles to be highly abundant (∼98%), analysis of numerous amplification products revealed an additional sequence (∼2%). We cloned and characterized chimeric monoclonal antibodies with each of these heavy chains. Using RACE we revealed the sequences for feline Fc gamma receptor I (FcγRI) and feline Fc neonatal receptor (FcRn). We constructed these recombinant receptors as well as fFcγRIII and determined their binding affinities to the chimeras. All of the chimeras bound to Protein A but not to Protein G, and bound tightly to fFcRn (KD=2-5 nM). Both IgG1 alleles have a high affinity for fFcγRI (KD=10-20 nM), they bind to the low-affinity fFcγRIII receptor (2-4 μM), and also bind to human complement C1q. Thus, feline IgG1a and 1b are expected to induce strong effector function in vivo. The additional IgG detected does not bind to recombinant fFcγRI or fFcγRIII and has negligible binding to hC1q. Consequently, although this putative subclass is projected to have a similar serum half-life as the IgG1 alleles based on comparable in vitro affinity to FcRn, it may not elicit the effector responses mediated by fFcγRI or fFcγRIII. Further testing with native receptors and functional cell-based assays would confirm effector function capabilities of feline IgG subclasses; however this is the first report characterizing affinities of feline IgGs to their Fc receptors and helps pave the way for construction of feline-specific IgGs for therapeutic use.

  13. Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.

    Science.gov (United States)

    Chandravathi, P L; Karani, Hetal Deepak; Siddaiahgari, Sirisha Rani; Lingappa, Lokesh

    2017-01-01

    Gray hair syndromes are rare syndromes which have an autosomal recessive inheritance and are characterized by pigmentary dilution of skin and hair, defects in immunological function, and nervous system defects. They comprise three disorders namely Chediak-Higashi syndrome (CHS), Griscelli syndrome (GPS), and Elejalde syndrome. Clinically, it is difficult to distinguish these disorders as their clinical features may overlap. Hence, to make a correct diagnosis and differentiate between CHS and GPS light microscopic examination of skin and hair shafts as well as peripheral blood smear evaluations should be done. In cases where the diagnosis is not possible chromosomal analysis for specific mutations can be done. In resource-poor settings where chromosomal analysis is not possible, and light microscopy findings are inconclusive, polarized microscopy can serve as a useful tool to distinguish between CHS and GPS. We report three cases with gray hair syndromes where the diagnosis on light microscopy and polarized microscopy of hair shaft correlated with the bone marrow examination findings and chromosomal analysis, thus emphasizing the importance of a noninvasive, cost-effective, and time-saving alternative in the diagnosis of these syndromes.

  14. Behind the scenes of GS: preventing and curing

    CERN Multimedia

    Anaïs Schaeffer

    2014-01-01

    With about 10,000 persons on the site every day, CERN’s infrastructure takes a real hammering every day of the year. Fortunately, the GS-SE Group is on the watch…   Here, like everywhere else, nothing stays shiny and new for very long. That’s why it’s important to carry out regular, even daily, maintenance of buildings, equipment, pipes and roads which every single day see thousands of CERN personnel and visitors passing by. The team responsible for this weighty task is part of the GS-SE Group. Suspicious steam All CERN’s buildings are heated by two heating plants (see the article in Bulletin 13-14/2011) via the underground hot-water network. Seen from below the ground, this is a labyrinth of pipes stretching over 30 km (including both the Meyrin and Prévessin sites). And with some of these pipes now over 40 years old, it goes without saying that leaks are a common hazard. “At the end of 2013, we had to deal with a big l...

  15. Behind the scenes of GS: nothing left to chance

    CERN Multimedia

    Anaïs Schaeffer

    2014-01-01

    The AS (Alarm Systems) Section in the GS-ASE Group is, as its name suggests, in charge of the various alarm systems spread across CERN’s many sites. Its mission? To install, manage and maintain more than 26,000 alarms of all types located both above ground and in the tunnels.   Detection Among these systems, the best known are of course the heat and/or smoke detectors, which quickly raise the alarm in the event of a fire. CERN has 8500 of these devices in total. In combination with these, evacuation alarms are also found all over the Laboratory, including some 1800 break glass call points for 2000 sirens. In the LHC tunnel, the evacuation alarms are connected to 200 Oxygen Deficiency Hazard (ODH) sensors, but this is not the only way of triggering an alarm. “The Fire Brigade permanently monitors the evolution of safety conditions in the LHC tunnels,” says Henrik Nissen, who is responsible for “Alarm Transmission” in the GS-ASE-AS Section. &...

  16. Polyketides from the Halotolerant Fungus Myrothecium sp. GS-17

    Directory of Open Access Journals (Sweden)

    Tao Liu

    2013-12-01

    Full Text Available Two new polyketides, myrothecol (1 and 5-hydroxy-3-methyl-4-(1- hydroxylethyl-furan-2(5H-one (2, were isolated from the fermentation broth of the halotolerant fungus Myrothecium sp. GS-17 along with three known compounds, 5-hydroxyl-3-[(1S-1-hydroxyethyl]-4-methylfuran-2(5H-one (3, 3,5-dimethyl-4- hydroxylmethyl-5-methoxyfuran-2(5H-one (4, and 3,5-dimethyl-4-hydroxymethyl-5- hydroxyfuran-2(5H-one (5. Compound 1 is the first natural occurring polyketide with a unique furylisobenzofuran skeleton. The structures of these compounds were established via extensive spectroscopic analyses including 1D-, 2D-NMR, HRESI-MS, and crystal X-ray diffraction analysis.

  17. One-pot solvothermal synthesis of ZnSe·xN2H4/GS and ZnSe/N-GS and enhanced visible-light photocatalysis.

    Science.gov (United States)

    Liu, Bitao; Tian, Liangliang; Wang, Yuhua

    2013-09-11

    Doped-graphene has attracted considerable attention in many fields because doping element can alter the electrical properties of graphene. In this paper, we synthesized ZnSe·xN2H4/graphene (ZnSe·xN2H4/GS) and ZnSe/nitrogen-doped graphene (ZnSe/N-GS) nanocomposites with p-n junctions via one-pot solvothermal process. The structure, morphologies and catalytic performance of the ZnSe·xN2H4/GS and ZnSe/N-GS are characterized by X-ray diffraction pattern (XRD), field emission scanning electron microscopy (SEM), transmission electron microscopy (TEM), Raman spectroscopy (RS), X-ray photoelectron spectroscopy (XPS), and cathodoluminescence spectrum (CL), respectively. Our experiments show that the as-prepared nanocomposites ZnSe·xN2H4/GS and ZnSe/N-GS exhibit remarkably enhanced photocatalytic activities for methylene blue (MB) dye under visible light irradiation. Even importantly, ZnSe/N-GS would make this degradation process more effective. Overall, this facile and catalyst-free synthesize method in this work could provide new insights into the fabrication of other composites based on doped graphene with high performance photocatalysts, which show their potential applications in producing of hydrogen through water splitting, environmental protection issues.

  18. GS1及其成员组织活动资讯

    Institute of Scientific and Technical Information of China (English)

    田芮丰

    2009-01-01

    @@ GS1总部开展OE项目 GS1总部开展OE(Organizational Effectiveness,提高组织效率)项目,不仅仅是为了重组GS1总部,更重要的是为会员提供更多、更好的服务,从而获得如下好处:

  19. Differential effects of antidepressants escitalopram versus lithium on Gs alpha membrane relocalization

    OpenAIRE

    Donati, Robert J.; Schappi, Jeffrey; Czysz, Andrew H; Jackson, Alexander; Mark M Rasenick

    2015-01-01

    Background Plasma membrane localization can play a significant role in the ultimate function of certain proteins. Specific membrane domains like lipid rafts have been shown to be inhibitory domains to a number of signaling proteins, including Gsα, and chronic antidepressant treatment facilitates Gs signaling by removing Gsα form lipid rafts. The intent of this study is to compare the effects of the selective serotnin reuptake inhibitor, escitalopram, with that of the mood stabilizing drug, li...

  20. Oral and maxillofacial considerations in Gardner’s syndrome: a report of two cases

    Science.gov (United States)

    Pereira, Debora Lima; Carvalho, Paulo Andre; Achatz, Maria Isabel Waddington; Rocha, AndreCaroli; TardinTorrezan, Giovana; Alves, Fabio Abreu

    2016-01-01

    Gardner’s syndrome (GS) is a genetic disorder characterised by intestinal polyps, multiple osteomas, and soft-tissue tumours. Dentists play an important role in the syndrome diagnosis considering that craniomaxillofacial osteomas are a major criteria for Gardner’s syndrome diagnosis. This study aimed to describe the main stomatological manifestation of GS and the importance of dentists in its diagnosis. Two patients presenting GS were evaluated. The first one had two osteomas in the mandible and GS was suspected. The colonoscopy confirmed the presence of polyposis and a prophylactic proctocolectomy was performed. The other patient had a late-stage diagnosis of GS and developed a rectum adenocarcinoma. The presence of craniomaxillofacial osteomas are a hallmark of the disease. Early-stage GS diagnosis may enable early diagnosis and preventive strategies in carriers. Other dental abnormalities, such as supernumerary teeth, hypercementosis and odontomas, can also be observed. PMID:26981152

  1. Ground Source Integrated Heat Pump (GS-IHP) Development

    Energy Technology Data Exchange (ETDEWEB)

    Baxter, V. D. [ORNL; Rice, K. [ORNL; Murphy, R. [ORNL; Munk, J. [ORNL; Ally, Moonis [ORNL; Shen, Bo [ORNL; Craddick, William [ORNL; Hearn, Shawn A. [ClimateMaster, Inc.

    2013-05-24

    Between October 2008 and May 2013 ORNL and ClimateMaster, Inc. (CM) engaged in a Cooperative Research and Development Agreement (CRADA) to develop a groundsource integrated heat pump (GS-IHP) system for the US residential market. A initial prototype was designed and fabricated, lab-tested, and modeled in TRNSYS (SOLAR Energy Laboratory, et al, 2010) to predict annual performance relative to 1) a baseline suite of equipment meeting minimum efficiency standards in effect in 2006 (combination of air-source heat pump (ASHP) and resistance water heater) and 2) a state-of-the-art (SOA) two-capacity ground-source heat pump with desuperheater water heater (WH) option (GSHPwDS). Predicted total annual energy savings, while providing space conditioning and water heating for a 2600 ft{sup 2} (242 m{sup 2}) house at 5 U.S. locations, ranged from 52 to 59%, averaging 55%, relative to the minimum efficiency suite. Predicted energy use for water heating was reduced 68 to 78% relative to resistance WH. Predicted total annual savings for the GSHPwDS relative to the same baseline averaged 22.6% with water heating energy use reduced by 10 to 30% from desuperheater contributions. The 1st generation (or alpha) prototype design for the GS-IHP was finalized in 2010 and field test samples were fabricated for testing by CM and by ORNL. Two of the alpha units were installed in 3700 ft{sup 2} (345 m{sup 2}) houses at the ZEBRAlliance site in Oak Ridge and field tested during 2011. Based on the steady-state performance demonstrated by the GS-IHPs it was projected that it would achieve >52% energy savings relative to the minimum efficiency suite at this specific site. A number of operational issues with the alpha units were identified indicating design changes needed to the system before market introduction could be accomplished. These were communicated to CM throughout the field test period. Based on the alpha unit test results and the diagnostic information coming from the field test

  2. Behind the scenes of GS: keeping CERN clean

    CERN Multimedia

    Antonella Del Rosso

    2014-01-01

    More than 350,000 square metres to be maintained, two different cleaning companies due to CERN’s sites being in two different countries, underground installations where cleanliness is a question of safety… the CERN team in charge of supervising cleaning services overcomes all these challenges to ensure that our workplace remains clean and pleasant every day.   Ensuring the cleanliness of sites containing a huge variety of buildings is an enormous challenge for the two experts in the GS Department in charge of cleaning services. Alain Bertrand has been at CERN for 29 years and knows all there is to know about the Organization’s buildings and what they are used for, the condition of their toilet facilities and, of course, the location of the border between France and Switzerland which, in terms of cleaning services, denotes the transition point between the two companies used. David Chameaux has been doing the same job as Alain for two years, working with him to ensu...

  3. Behind the scenes of GS: Service orientation CERN-wide

    CERN Multimedia

    Corinne Pralavorio

    2014-01-01

    A far-reaching project to improve the management of services was initiated in 2010, through the implementation of standard methods and tools to improve the efficiency of CERN services continuously.   Everyone at CERN now knows the telephone number 77777, the e-mail address service-desk@cern.ch and the CERN Service Portal. Behind all this lies a one-stop-shop where a team of operators is ready to answer your call as swiftly as possible and help you send that over-sized parcel to Patagonia or repair those faulty blinds (see Bulletin article 44-45/2013). But that’s not all, as Reinoud Martens, head of the Service Management Support Group in the GS Department, explains: “As far as the service management project is concerned, receiving and assigning incoming calls is just the tip of the iceberg! More generally, the aim of this massive project, launched in 2010 in close collaboration with the IT Department, is to enhance service management and implement standardised met...

  4. GS-TEC: the Gaia Spectrophotometry Transient Events Classifier

    CERN Document Server

    Blagorodnova, Nadejda; Wyrzykowski, \\Lukasz; Irwin, Mike; Walton, Nicholas A

    2014-01-01

    We present an algorithm for classifying the nearby transient objects detected by the Gaia satellite. The algorithm will use the low-resolution spectra from the blue and red spectro-photometers on board of the satellite. Taking a Bayesian approach we model the spectra using the newly constructed reference spectral library and literature-driven priors. We find that for magnitudes brighter than 19 in Gaia $G$ magnitude, around 75\\% of the transients will be robustly classified. The efficiency of the algorithm for SNe type I is higher than 80\\% for magnitudes $G\\leq$18, dropping to approximately 60\\% at magnitude $G$=19. For SNe type II, the efficiency varies from 75 to 60\\% for $G\\leq$18, falling to 50\\% at $G$=19. The purity of our classifier is around 95\\% for SNe type I for all magnitudes. For SNe type II it is over 90\\% for objects with $G \\leq$19. GS-TEC also estimates the redshifts with errors of $\\sigma_z \\le$ 0.01 and epochs with uncertainties $\\sigma_t \\simeq$ 13 and 32 days for type SNe I and SNe II re...

  5. Behind the scenes of GS: security affects us all

    CERN Multimedia

    Antonella Del Rosso

    2014-01-01

    A CERN manager, supported by two outside companies, manages the three entities in the GS Department that are in charge of various aspects of security. In total, about 80 people, 300 cameras, a surveillance centre (CSA) and 22 kilometres of fences are responsible for ensuring that the Organization is secure. But in spite of these significant resources, the best strategy for maintaining a good level of security at CERN is the active support of its users.   CERN’s security service covers three main areas: access control, comprising the security guards and a patrol service that ensures the site is secure and monitors compliance with traffic and parking rules; registration; and locks and keys. The 22 guards on the day shift and the seven on the night shift, who constantly monitor access, are spread across the two main sites and the four experiment sites. “The guards’ main job is to check that only those who are authorised to do so enter the site,” explains...

  6. Goldbloom's syndrome - a case report.

    Science.gov (United States)

    Santos, Sónia; Estanqueiro, Paula; Salgado, Manuel

    2013-01-01

    The Goldbloom's syndrome (GS) is a rare clinical condition of unknown aetiology, occurring exclusively in the pediatric population. It consists in an idiopathic periosteal hyperostosis with dysproteinemia, whose symptoms can mimic a neoplastic disease. We present a case report illustrating the diagnostic challenge of this condition. The exclusion of the common causes of bone pain, associated with generalized periostitis and increased gammaglobulins suggested the diagnosis of GS. The self-limited symptoms, the resolution of radiological findings in four months and the normalization of laboratory abnormalities within ten months, allowed to establish definitely the diagnosis of GS. GS must be considered when diffuse bone pain, prolonged fever and weight loss are present after exclusion of malignant disease with bone involvement.

  7. Collaborative Activities Enabled by GroupScribbles (GS): An Exploratory Study of Learning Effectiveness

    Science.gov (United States)

    Looi, Chee-Kit; Chen, Wenli; Ng, Foo-Keong

    2010-01-01

    This paper describes the findings of an exploratory cycle of a design-based research project and examines the learning effectiveness of collaborative activities that are supported by the GroupScribbles (GS) software technology in two Singapore primary science classrooms. The students had ten weeks of GS-based lessons in science, which were…

  8. GS6, A Member of the GRAS Gene Family, Negatively Regulates Grain Size in Rice

    Institute of Scientific and Technical Information of China (English)

    Lianjun Sun; Xiaojiao Li; Yongcai Fu; Zuofeng Zhu; Lubin Tan; Fengxia Liu; Xianyou Sun; Xuewen Sun; Chuanqing Sun

    2013-01-01

    Grain size is an important yield-related trait in rice. Intensive artificial selection for grain size during domestication is evidenced by the larger grains of most of today’s cultivars compared with their wild relatives. However, the molecular genetic control of rice grain size is still not well characterized. Here, we report the identification and cloning of Grain Size 6 (GS6), which plays an important role in reducing grain size in rice. A premature stop at the þ348 position in the coding sequence (CDS) of GS6 increased grain width and weight significantly. Alignment of the CDS regions of GS6 in 90 rice materials revealed three GS6 alleles. Most japonica varieties (95%) harbor the Type I haplotype, and 62.9%of indica varieties harbor the Type II haplotype. Association analysis revealed that the Type I haplotype tends to increase the width and weight of grains more than either of the Type II or Type III haplotypes. Further investigation of genetic diversity and the evolutionary mechanisms of GS6 showed that the GS6 gene was strongly selected in japonica cultivars. In addition, a “ggc” repeat region identified in the region that encodes the GRAS domain of GS6 played an important historic role in the domestication of grain size in rice. Knowledge of the function of GS6 might aid efforts to elucidate the molecular mechanisms that control grain development and evolution in rice plants, and could facilitate the genetic improvement of rice yield.

  9. Clinical management of pregnancy in women with Goodpasture syndrome.

    Science.gov (United States)

    Huser, Martin; Wagnerova, Kristyna; Janku, Petr; Malaskova, Lenka; Stourac, Petr

    2015-01-01

    Goodpasture syndrome (GS) is an autoimmune disease affecting mainly the kidneys and lungs. This review article focuses on GS occurring during pregnancy, which can seriously threaten the lives of both mother and fetus. We summarize the current clinical diagnosis and management of GS in pregnancy. A profound literature search was carried out to review all published articles or case studies reporting on GS in pregnancy. We extracted the following data from each case: patient age, parity, gestational age, therapy of GS during pregnancy, pregnancy outcome, neonatal outcome, mode of delivery, and the patient's kidney status. We describe in detail how a recent case of GS diagnosed in pregnancy was successfully treated. A review of the available literature revealed 4 cases of GS in pregnancy. The average patient age was 29.3 ± 2.5 years, and most were primiparous, with an average parity of 1.3 ± 1.5. The average gestational age at the time of diagnosis was 12.5 ± 5.9 weeks. The therapies of GS during pregnancy were remarkably varied. Furthermore, the neonatal outcomes were also quite individual among the observed cases. The occurrence of GS during pregnancy is very rare. This unusual pregnancy complication is associated with significant maternal and fetal morbidity. The management of GS during pregnancy requires intensive care and multidisciplinary cooperation. © 2015 S. Karger AG, Basel.

  10. GERSTMANN’S SYNDROME IN ACUTE STROKE PATIENTS

    OpenAIRE

    Zukic, Sanela; MRKONJIC Zamir; Sinanovic, Osman; Vidovic, Mirjana; Kojic, Biljana

    2012-01-01

    Objective: Gerstmann in 1924. observed in a few patients a concomitant impairment in discriminating their own fingers, writing by hand, distinguishing left from right and performing calculations. He claimed that this tetrad of symptoms constituted a syndromal entity, assigned it to a lesion of the dominant parietal lobe. Since than, Gerstmann`s syndrome (GS) was enigma for neuropsychologists. The aim of this study was to analyze frequency and clinical features of GS among acute stroke patient...

  11. Research advances on GS/GOGAT cycle i n higher plants%高等植物GS/GOGAT循环研究进展

    Institute of Scientific and Technical Information of China (English)

    莫良玉; 吴良欢; 陶勤南

    2001-01-01

    The aims of this ar ticle are to review recent studies onammonium assimilation via the GS/GOGAT cyc le in higher plants. More than 95% of the ammonium, derived from various metabo l isms and uptake from soil, are thought to be assimilated via GS/GOGAT cycle. GS and GOGAT can be found in leave, nodules and roots. The role of GS/GOGAT cycle i s to assimilate the ammonium from photorespiration and nitrate reduction in leav e, the ammonium from nitrogen fixation in nodule and the ammonium from absorptio n by roots from soil and nitrate reduction in roots. The regulatory mechanisms o f the GS/GOGAT cycle are not clear. But the advances of gene engineering techno l ogy, immunocyto-chemistry and modern physiological technology can help us to be tter understand the regulatory mechanisms of the GS/GOGAT cycle. With modern bi o technology held, the plant nutrition studies can expand more. To better underst a nd the regulatory mechanisms of the GS/GOGAT cycle is essential to adequately ap ply nitrogen fertilizer and improve plant nitrogen use efficiency.%高等植物体内95%以上的NH4+通过GS/GOGAT(谷氨酰胺合成酶/谷氨酸合成酶)循环同化。GS、GOGAT在植物叶片、根瘤以及根中均有分布,但在不同器官中GS/GOGAT循环的作用不尽相同。在绿色组织中,GS/GOGAT循环的主要作用是同化光呼吸产生的NH4+以及硝酸盐在叶中还原产生的NH4+,在根瘤中则主要同化根瘤菌固N产生的NH4+,而在根中则是同化吸收到体内的NH4+以及硝酸盐被吸收后在根中还原产生的NH4+。迄今有关植物GS/GOGAT循环的研究还不太深入,但是随着基因工程技术、免疫组织化学技术以及现代植物生理学技术的发展,GS/GOGAT循环研究展示广阔前景。对该循环及其调控机制的进一步了解,可为合理利用氮肥、提高植物N的利用率提供理论依据。本文综述了近年来对GS/GOGAT循环的研究进展情况。

  12. Chromatin modification contributes to the expression divergence of three TaGS2 homoeologs in hexaploid wheat

    Science.gov (United States)

    Zhang, Wei; Fan, Xiaoli; Gao, Yingjie; Liu, Lei; Sun, Lijing; Su, Qiannan; Han, Jie; Zhang, Na; Cui, Fa; Ji, Jun; Tong, Yiping; Li, Junming

    2017-01-01

    Plastic glutamine synthetase (GS2) is responsible for ammonium assimilation. The reason that TaGS2 homoeologs in hexaploid wheat experience different selection pressures in the breeding process remains unclear. TaGS2 were minimally expressed in roots but predominantly expressed in leaves, and TaGS2-B had higher expression than TaGS2-A and TaGS2-D. ChIP assays revealed that the activation of TaGS2-B expression in leaves was correlated with increased H3K4 trimethylation. The transcriptional silencing of TaGS2 in roots was correlated with greater cytosine methylation and less H3K4 trimethylation. Micrococcal nuclease and DNase I accessibility experiments indicated that the promoter region was more resistant to digestion in roots than leaves, which indicated that the closed nucleosome conformation of the promoter region was important to the transcription initiation for the spatial-temporal expression of TaGS2. In contrast, the transcribed regions possess different nuclease accessibilities of three TaGS2 homoeologs in the same tissue, suggesting that nucleosome conformation of the transcribed region was part of the fine adjustment of TaGS2 homoeologs. This study provides evidence that histone modification, DNA methylation and nuclease accessibility coordinated the control of the transcription of TaGS2 homoeologs. Our results provided important evidence that TaGS2-B experienced the strongest selection pressures during the breeding process. PMID:28300215

  13. Finger recognition and gesture imitation in Gerstmann's syndrome.

    Science.gov (United States)

    Moro, V; Pernigo, S; Urgesi, C; Zapparoli, P; Aglioti, S M

    2008-01-01

    We report the association between finger agnosia and gesture imitation deficits in a right-handed, right-hemisphere damaged patient with Gerstmann's syndrome (GS), a neuropsychological syndrome characterized by finger and toe agnosia, left-right disorientation and dyscalculia. No language deficits were found. The patient showed a gestural imitation deficit that specifically involved finger movements and postures. The association between finger recognition and imitation deficits suggests that both static and dynamic aspects of finger representations are impaired in GS. We suggest that GS is a disorder of body representation that involves hands and fingers, that is, the non-facial body parts most involved in social interactions.

  14. Systematics and evolution of tribe Sinningieae (Gesneriaceae): evidence from phylogenetic analyses of six plastid DNA regions and nuclear ncpGS.

    Science.gov (United States)

    Perret, Mathieu; Chautems, Alain; Spichiger, Rodolphe; Kite, Geoffrey; Savolainen, Vincent

    2003-03-01

    For nearly all species in the three genera of tribe Sinningieae (Gesneriaceae), Sinningia, Paliavana, and Vanhouttea (mostly in southeastern Brazil) plus 10 outgroups, we have sequenced six non-coding DNA regions (i.e., plastid intergenic spacers trnT-trnL, trnL-trnF, trnS-trnG, atpB-rbcL, and introns in the trnL and rpl16 genes) and four introns in nuclear plastid-expressed glutamine synthetase gene (ncpGS). Separate and combined analyses of these data sets using maximum parsimony supported the monophyly of Sinningieae, but the genera Paliavana and Vanhouttea were found embedded within Sinningia; therefore a new infrageneric classification is here proposed. Mapping of pollination syndromes on the DNA-based trees supported multiple origins of hummingbird and bee syndromes and derivation of moth and bat syndromes from hummingbird flowers. Perennial tubers were derived from perennial stems in non-tuberous plants.

  15. Density-dependent nerve growth factor regulation of Gs-alpha RNA in pheochromocytoma 12 cells.

    Science.gov (United States)

    Tjaden, G; Aguanno, A; Kumar, R; Benincasa, D; Gubits, R M; Yu, H; Dolan, K P

    1990-01-01

    Nerve growth factor (NGF) affects levels of the alpha subunit of the stimulatory G protein (Gs-alpha) in pheochromocytoma 12 cells in a bidirectional, density-dependent manner. Cells grown at high density responded to NGF treatment with increased levels of Gs-alpha mRNA and protein. Conversely, in cells grown in low-density cultures, levels of this mRNA were lowered by NGF treatment. Images PMID:2160599

  16. Sialoscintigraphy, dacryoscintigraphy, and /sup 67/Ga-scintigraphy in SJOGREN's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    De Rossi, G.

    1988-10-01

    In 68 cases of SJOGREN's syndrome (SS) dacryoscintigraphy (DS), sialoscintigraphy (SIS), and /sup 67/Ga scintigraphy (GS) were performed along with other diagnostic examinations. Pre- and post-therapy results were available. The DS, SIS, and GS triad proves to be a simple, sensitive, and easy repeatable method to improve the diagnosis and follow-up of SS.

  17. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

    NARCIS (Netherlands)

    Glaudemans, B.; Yntema, H.G.; San-Cristobal, P.; Schoots, J.; Pfundt, R.; Kamsteeg, E.J.; Bindels, R.J.; Knoers, N.V.; Hoenderop, J.G.J.; Hoefsloot, L.H.

    2012-01-01

    Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis in conjunction with significant hypomagnesemia and hypocalciuria. The GS phenotype is caused by mutations in the solute carrier family 12, member 3 (SLC12A3) gene that encodes the

  18. Interference with Gsα-Coupled Receptor Signaling in Renin-Producing Cells Leads to Renal Endothelial Damage

    DEFF Research Database (Denmark)

    Lachmann, Peter; Hickmann, Linda; Steglich, Anne

    2017-01-01

    Intracellular cAMP, the production of which is catalyzed by the α-subunit of the stimulatory G protein (Gsα), controls renin synthesis and release by juxtaglomerular (JG) cells of the kidney, but may also have relevance for the physiologic integrity of the kidney. To investigate this possibility......, we generated mice with inducible knockout of Gsα in JG cells and monitored them for 6 months after induction at 6 weeks of age. The knockout mapped exclusively to the JG cells of the Gsα-deficient animals. Progressive albuminuria occurred in Gsα-deficient mice. Compared with controls expressing wild......-type Gsα alleles, the Gsα-deficient mice had enlarged glomeruli with mesangial expansion, injury, and FSGS at study end. Ultrastructurally, the glomerular filtration barrier of the Gsα-deficient animals featured endothelial gaps, thickened basement membrane, and fibrin-like intraluminal deposits, which...

  19. Differential regulation of GS-GOGAT gene expression by plant growth regulators in Arabidopsis seedlings

    Directory of Open Access Journals (Sweden)

    Dragićević Milan

    2016-01-01

    Full Text Available Primary and secondary ammonium assimilation is catalyzed by the glutamine synthetase-glutamate synthase (GS-GOGAT pathway in plants. The Arabidopsis genome contains five cytosolic GS1 genes (GLN1;1 - GLN1;5, one nuclear gene for chloroplastic GS2 isoform (GLN2, two Fd-GOGAT genes (GLU1 and GLU2 and a GLT1 gene coding for NADH-GOGAT. Even though the regulation of GS and GOGAT isoforms has been extensively studied in response to various environmental and metabolic cues in many plant species, little is known about the effects of phytohormones on their regulation. The objective of this study was to investigate the impact of representative plant growth regulators, kinetin (KIN, abscisic acid (ABA, gibberellic acid (GA3 and 2,4-dichlorophenoxyacetic acid (2,4-D, on the expression of A. thaliana GS and GOGAT genes. The obtained results indicate that GS and GOGAT genes are differentially regulated by growth regulators in shoots and roots. KIN and 2,4-D repressed GS and GOGAT expression in roots, with little effect on transcript levels in shoots. KIN affected all tested genes; 2,4-D was apparently more selective and less potent. ABA induced the expression of GLN1;1 and GLU2 in whole seedlings, while GA3 enhanced the expression of all tested genes in shoots, except GLU2. The observed expression patterns are discussed in relation to physiological roles of investigated plant growth regulators and N-assimilating enzymes. [Projekat Ministarstva nauke Republike Srbije, br. ON173024

  20. Therapeutic Efficacy of the Small Molecule GS-5734 against Ebola Virus in Rhesus Monkeys

    Science.gov (United States)

    Warren, Travis K.; Jordan, Robert; Lo, Michael K.; Ray, Adrian S.; Mackman, Richard L.; Soloveva, Veronica; Siegel, Dustin; Perron, Michel; Bannister, Roy; Hui, Hon C.; Larson, Nate; Strickley, Robert; Wells, Jay; Stuthman, Kelly S.; Van Tongeren, Sean A.; Garza, Nicole L.; Donnelly, Ginger; Shurtleff, Amy C.; Retterer, Cary J.; Gharaibeh, Dima; Zamani, Rouzbeh; Kenny, Tara; Eaton, Brett P.; Grimes, Elizabeth; Welch, Lisa S.; Gomba, Laura; Wilhelmsen, Catherine L.; Nichols, Donald K.; Nuss, Jonathan E.; Nagle, Elyse R.; Kugelman, Jeffrey R.; Palacios, Gustavo; Doerffler, Edward; Neville, Sean; Carra, Ernest; Clarke, Michael O.; Zhang, Lijun; Lew, Willard; Ross, Bruce; Wang, Queenie; Chun, Kwon; Wolfe, Lydia; Babusis, Darius; Park, Yeojin; Stray, Kirsten M.; Trancheva, Iva; Feng, Joy Y.; Baraskaus, Ona; Xu, Yili; Wong, Pamela; Braun, Molly R.; Flint, Mike; McMullan, Laura K.; Chen, Shan-Shan; Fearns, Rachel; Swaminathan, Swami; Mayers, Douglas L.; Spiropoulou, Christina F.; Lee, William A.; Nichol, Stuart T.; Cihlar, Tomas; Bavari, Sina

    2016-01-01

    Summary The most recent Ebola virus outbreak in West Africa – unprecedented in the number of cases and fatalities, geographic distribution, and number of nations affected – highlights the need for safe, effective, and readily available antiviral agents for treatment and prevention of acute Ebola virus (EBOV) disease (EVD) or sequelae1. No antiviral therapeutics have yet received regulatory approval or demonstrated clinical efficacy. Here we describe the discovery of a novel anti-EBOV small molecule antiviral, GS-5734, a monophosphoramidate prodrug of an adenosine analog. GS-5734 exhibits antiviral activity against multiple variants of EBOV in cell-based assays. The pharmacologically active nucleoside triphosphate (NTP) is efficiently formed in multiple human cell types incubated with GS-5734 in vitro, and the NTP acts as an alternate substrate and RNA-chain terminator in primer-extension assays utilizing a surrogate respiratory syncytial virus RNA polymerase. Intravenous administration of GS-5734 to nonhuman primates resulted in persistent NTP levels in peripheral blood mononuclear cells (half-life = 14 h) and distribution to sanctuary sites for viral replication including testes, eye, and brain. In a rhesus monkey model of EVD, once daily intravenous administration of 10 mg/kg GS-5734 for 12 days resulted in profound suppression of EBOV replication and protected 100% of EBOV-infected animals against lethal disease, ameliorating clinical disease signs and pathophysiological markers, even when treatments were initiated three days after virus exposure when systemic viral RNA was detected in two of six treated animals. These results provide the first substantive, post-exposure protection by a small-molecule antiviral compound against EBOV in nonhuman primates. The broad-spectrum antiviral activity of GS-5734 in vitro against other pathogenic RNA viruses – including filoviruses, arenaviruses, and coronaviruses – suggests the potential for expanded indications

  1. A novel Glycine soja cysteine proteinase inhibitor GsCPI14, interacting with the calcium/calmodulin-binding receptor-like kinase GsCBRLK, regulated plant tolerance to alkali stress.

    Science.gov (United States)

    Sun, Xiaoli; Yang, Shanshan; Sun, Mingzhe; Wang, Sunting; Ding, Xiaodong; Zhu, Dan; Ji, Wei; Cai, Hua; Zhao, Chaoyue; Wang, Xuedong; Zhu, Yanming

    2014-05-01

    It has been well demonstrated that cystatins regulated plant stress tolerance through inhibiting the cysteine proteinase activity under environmental stress. However, there was limited information about the role of cystatins in plant alkali stress response, especially in wild soybean. Here, in this study, we focused on the biological characterization of a novel Glycine soja cystatin protein GsCPI14, which interacted with the calcium/calmodulin-binding receptor-like kinase GsCBRLK and positively regulated plant alkali stress tolerance. The protein-protein interaction between GsCBRLK and GsCPI14 was confirmed by using split-ubiquitin based membrane yeast two-hybrid analysis and bimolecular fluorescence complementation assay. Expression of GsCPI14 was greatly induced by salt, ABA and alkali stress in G. soja, and GsCBRLK overexpression (OX) in Glycine max promoted the stress induction of GmCPI14 expression under stress conditions. Furthermore, we found that GsCPI14-eGFP fusion protein localized in the entire Arabidopsis protoplast and onion epidermal cell, and GsCPI14 showed ubiquitous expression in different tissues of G. soja. In addition, we gave evidence that the GST-GsCPI14 fusion protein inhibited the proteolytic activity of papain in vitro. At last, we demonstrated that OX of GsCPI14 in Arabidopsis promoted the seed germination under alkali stress, as evidenced by higher germination rates. GsCPI14 transgenic Arabidopsis seedlings also displayed better growth performance and physiological index under alkali stress. Taken together, results presented in this study demonstrated that the G. soja cysteine proteinase inhibitor GsCPI14 interacted with the calcium/calmodulin-binding receptor-like kinase GsCBRLK and regulated plant tolerance to alkali stress.

  2. Osteoblastic regulation of B lymphopoiesis is mediated by Gsα-dependent signaling pathways

    Science.gov (United States)

    Wu, Joy Y.; Purton, Louise E.; Rodda, Stephen J.; Chen, Min; Weinstein, Lee S.; McMahon, Andrew P.; Scadden, David T.; Kronenberg, Henry M.

    2008-01-01

    Osteoblasts play an increasingly recognized role in supporting hematopoietic development and recently have been implicated in the regulation of B lymphopoiesis. Here we demonstrate that the heterotrimeric G protein α subunit Gsα is required in cells of the osteoblast lineage for normal postnatal B lymphocyte production. Deletion of Gsα early in the osteoblast lineage results in a 59% decrease in the percentage of B cell precursors in the bone marrow. Analysis of peripheral blood from mutant mice revealed a 67% decrease in the number of circulating B lymphocytes by 10 days of age. Strikingly, other mature hematopoietic lineages are not decreased significantly. Mice lacking Gsα in cells of the osteoblast lineage exhibit a reduction in pro-B and pre-B cells. Furthermore, interleukin (IL)-7 expression is attenuated in Gsα-deficient osteoblasts, and exogenous IL-7 is able to restore B cell precursor populations in the bone marrow of mutant mice. Finally, the defect in B lymphopoiesis can be rescued by transplantation into a WT microenvironment. These findings confirm that osteoblasts are an important component of the B lymphocyte niche and demonstrate in vivo that Gsα-dependent signaling pathways in cells of the osteoblast lineage extrinsically regulate bone marrow B lymphopoiesis, at least partially in an IL-7-dependent manner. PMID:18957542

  3. Mechanosensitive ion channel Piezo2 is inhibited by D-GsMTx4.

    Science.gov (United States)

    Alcaino, Constanza; Knutson, Kaitlyn; Gottlieb, Philip A; Farrugia, Gianrico; Beyder, Arthur

    2017-01-13

    Enterochromaffin (EC) cells are the primary mechanosensors of the gastrointestinal (GI) epithelium. In response to mechanical stimuli EC cells release serotonin (5-hydroxytryptamine; 5-HT). The molecular details of EC cell mechanosensitivity are poorly understood. Recently, our group found that human and mouse EC cells express the mechanosensitive ion channel Piezo2. The mechanosensitive currents in a human EC cell model QGP-1 were blocked by the mechanosensitive channel blocker D-GsMTx4. In the present study we aimed to characterize the effects of the mechanosensitive ion channel inhibitor spider peptide D-GsMTx4 on the mechanically stimulated currents from both QGP-1 and human Piezo2 transfected HEK-293 cells. We found co-localization of 5-HT and Piezo2 in QGP-1 cells by immunohistochemistry. QGP-1 mechanosensitive currents had biophysical properties similar to dose-dependently Piezo2 and were inhibited by D-GsMTx4. In response to direct displacement of cell membranes, human Piezo2 transiently expressed in HEK-293 cells produced robust rapidly activating and inactivating inward currents. D-GsMTx4 reversibly and dose-dependently inhibited both the potency and efficacy of Piezo2 currents in response to mechanical force. Our data demonstrate an effective inhibition of Piezo2 mechanosensitive currents by the spider peptide D-GsMTx4.

  4. Multiple and independent origins of short seeded alleles of GS3 in rice

    Science.gov (United States)

    Takano-Kai, Noriko; Jiang, Hui; Powell, Adrian; McCouch, Susan; Takamure, Itsuro; Furuya, Naruto; Doi, Kazuyuki; Yoshimura, Atsushi

    2013-01-01

    GRAIN SIZE 3 (GS3) is a cloned gene that is related to seed length. Here we report the discovery of new deletion alleles at the GS3 locus, each of which confer short seed. We selected ten short seeded cultivars from a collection of 282 diverse cultivars. Sequence analysis across the GS3 gene in these ten cultivars identified three novel alleles and a known allele that contain several independent deletion(s) in the fifth exon of GS. These independent deletion variants each resulted in a frameshift mutation that caused a premature stop codon, and they were functionally similar to one another. Each coded for a truncated gene product that behaved as an incomplete dominant allele and conferred a short seeded phenotype. Haplotype analysis of these sequence variants indicated that two of the variants were of japonica origin, and two were from indica. Transformation experiments demonstrated that one of the deletion alleles of GS3 decrease the cell number in the upper epidermis of the glume, resulting in a significant reduction in seed length. The multiple and independent origins of these short seeded alleles indicate that farmers and early breeders imposed artificial selection favoring short seeds. PMID:23641184

  5. 徕卡GS15-GPS RTK测量的应用研究%Study on the Application of RTK Surveying by Laika GS15 - GPS

    Institute of Scientific and Technical Information of China (English)

    贾涛

    2012-01-01

    文章通过实测控制网及工程放样,在静态观测数据的基准下,以某校园GPS控制网为例,利用徕卡GS15 - GPS接收机进行RTK模式测量控制点坐标,与静态观测数据进行对比分析;同时利用CORS的单基准站模式,测量控制点的坐标,与静态观测数据进行对比分析;通过一系列的实践和对比分析,不仅正确掌握了徕卡GS15 - GPS接收机的操作及应用,而且证明了其精度完全可以满足各项工程的要求.

  6. GS 氧化交联变性淀粉浆料的性能分析%Property analysis of GS oxidative crosslinking modified starch

    Institute of Scientific and Technical Information of China (English)

    黄河柳; 沈兰萍

    2014-01-01

    通过对GS氧化交联变性淀粉浆料的浆液和浆膜的各项性能指标进行系统的测试与分析,得到GS氧化交联变性淀粉的水溶性良好,浆液黏度值稳定,成膜完整,浆膜的吸湿性较小,耐屈曲性良好,断裂强力较大。分别将GS氧化交联变性淀粉浆料和PV A与变性淀粉、固体聚丙烯酸进行配伍,对比两组配方下的浆纱强力、毛羽和耐磨性能等。实验结果表明,GS氧化交联变性淀粉的浆纱性能良好,可满足纯棉纱上浆要求。%The size and size film properties of GS oxidative crosslinking modified starch were tested and analyzed .The result shows that the water solubility of GS oxidative crosslinking modified starch is good , size liquor viscosity is stable ,size film forming is complete ,moisture absorption of size film is small ,the resistance to buckling and breaking strength is high .GS oxidative crosslinking modified starch and PVA are respectively mixed with modified starch ,solid polyacrylate ,the strength ,hairiness and abrasion re-sistance of two kinds of size formula for cotton are compared .It is concluded that the sizing performance of GS oxidative crosslinking modified starch is good enough to meet the requirements of cotton sizing .

  7. Bioinformatics and protein modelling of the GS element of Mycobacteriumavium subsp. paratuberculosis (MAP) and GS-encoded proteins as drugtargets and vaccine components

    Institute of Scientific and Technical Information of China (English)

    Joe Sheridan; Tim Bull; Nazira Sumar; Jun Cheng; John Hermon-Taylor

    2000-01-01

    AIM To determine the function and cellular localization of GS-encoded proteins and to assess their potentialas drug targets and vaccine components.METHODS Bioinformatics software was used to predict the function of GS-encoded proteins and theirlocation within MAP. Protein modelling software was used to build protein structures.RESULTS The gene gsa is a truncated glycosyl transferase and probably non-functional. gsbA and gsbBproduce GDP-fucose which is methylated by gsc and acetylated by mpa. gsd is a fucosyl transferase whichattaches fucose to subterminal rhamnose on cell surface glycopeptidolipid. gsa, gsbA and gsbB and gsc arelocated within the cytoplasm. mpa is embedded in the plasma membrane with 10 transmembrane regions anda conspicuous extracellular loop. gsd is lipid-linked and predicted to localize to the microbial cell surface.CONCLUSION GS encodes the biosynthetic machinery to give MAP a surface coat of methylated andacetylated fucose which may contribute to its protease-resistant nature and ability to minimize immunerecognition. The gsbA/gsbB operon and gsd are promising drug targets and gsd is a good candidatecomponent of a new class of anti-MAP vaccines.

  8. Propiedades psicométricas del Maslach Burnout Inventory-GS en una muestra multiocupacional venezolana

    Directory of Open Access Journals (Sweden)

    Anthony Constant Millán de Lange

    2012-06-01

    Full Text Available Psychometric properties of the Maslach Burnout Inventory-GS in a Venezuelan sampleThe assessment of work stress is one of the most important aspects in the current scope of occupational psychological health, especially when it comes to chronic levels of involvement.Here are the results of the Venezuelan psychometric validation of the Cuban version of the Maslach Burnout Inventory-General Survey (MBI-GS. Results show adequate reliability of the instrument and suggest the need to remove item 1 to ensure its construct validity.Some indicators reveal the divergent criterion validity of the MBI-GS on the degree of the participant’s psychological well-being.

  9. SEMICONDUCTOR INTEGRATED CIRCUITS: A 2-GS/s 6-bit self-calibrated flash ADC

    Science.gov (United States)

    Youtao, Zhang; Xiaopeng, Li; Min, Zhang; Ao, Liu; Chen, Chen

    2010-09-01

    A single channel 2-GS/s 6-bit ADC with cascade resistive averaging and self foreground calibration is demonstrated in 0.18-μm CMOS. The calibration method based on DAC trimming improves the linearity and dynamic performance further. The peak DNL and INL are measured as 0.34 and 0.22 LSB, respectively. The SNDR and SFDR have achieved 36.5 and 45.9 dB, respectively, with 1.22 MHz input signal and 2 GS/s. The proposed ADC, including on-chip track-and-hold amplifiers and clock buffers, consumes 570 mW from a single 1.8 V supply while operating at 2 GS/s.

  10. Error de medición alrededor de los puntos de corte en el MBI-GS

    Directory of Open Access Journals (Sweden)

    Manuel Fernández Arata

    2014-12-01

    Full Text Available Resumen En la calificación de los resultados del MBI-GS (Maslach Burnout Inventory - General Survey como de sus antecesores, se usan interpretaciones dimensionales, pero también puntos de corte para clasificar a los sujetos y diferenciarlos con respecto a la presencia del síndrome de burnout. Sin embargo, este uso está orientado al tipo de tests referidos a criterios, por lo que la estimación de la confiabilidad debe converger con este tipo de uso. El objetivo del presente estudio fue estimar la confiabilidad alrededor de varios puntos de corte en el MBI-GS (agotamiento emocional, eficacia profesional y cinismo, mediante el coeficiente K2 de Livingston. Los participantes fueron 741 sujetos de varias ocupaciones, provenientes de instituciones públicas y privadas de Lima y de otras ciudades. Previo a la obtención de la confiabilidad criterial, se verificó la unidimensionalidad, el modelo equivalente tau, la distribución y la bimodalidad de los puntajes. Se halló que los puntos de corte más extremos muestran mayor confiabilidad; que la confiabilidad se incrementa en relación al grado de extremidad de los puntajes; que el puntaje de agotamiento emocional obtiene mayor confiabilidad criterial y que cinismo obtiene la menor, pero todos los puntajes generalmente muestran buenas confiabilidades. Se discute el uso de los puntos de corte en relación a su validez y confiabilidad. Abstract In the rating of the MBI-GS results (Maslach Burnout Inventory - General Survey as its predecessors, we used dimensional interpretations, but also cut-off points for classifying and differentiating the subjects with respect to the presence of the burnout syndrome. However, this use is oriented to the type of tests relating to criteria so that the estimate of the reliability must converge with this type of use. The objective of this study was to estimate the reliability around various cutting points in the MBI-GS (emotional exhaustion, professional

  11. Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy

    Directory of Open Access Journals (Sweden)

    Elaheh Malakan Rad

    2014-01-01

    Full Text Available Goldenhar syndrome (GS or oculo-auriculo-vertebral dysplasia (OAVD, involves a wide variety of organ systems. Cardiovascular anomalies are among the frequent malformations. The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA, severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral renal artery stenosis, and mild Dandy-Walker syndrome. The embryology of RCAA and coarctation is revisited.

  12. Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy

    OpenAIRE

    Elaheh Malakan Rad

    2014-01-01

    Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia (OAVD), involves a wide variety of organ systems. Cardiovascular anomalies are among the frequent malformations. The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA), severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral renal artery stenosis, and mild Dandy-Walker syndrome. The embryology of RCAA and co...

  13. Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy.

    Science.gov (United States)

    Rad, Elaheh Malakan

    2014-09-01

    Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia (OAVD), involves a wide variety of organ systems. Cardiovascular anomalies are among the frequent malformations. The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA), severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral renal artery stenosis, and mild Dandy-Walker syndrome. The embryology of RCAA and coarctation is revisited.

  14. Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy

    Science.gov (United States)

    Rad, Elaheh Malakan

    2014-01-01

    Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia (OAVD), involves a wide variety of organ systems. Cardiovascular anomalies are among the frequent malformations. The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA), severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral renal artery stenosis, and mild Dandy-Walker syndrome. The embryology of RCAA and coarctation is revisited. PMID:25298700

  15. Ectopic expression of GsPPCK3 and SCMRP in Medicago sativa enhances plant alkaline stress tolerance and methionine content.

    Directory of Open Access Journals (Sweden)

    Mingzhe Sun

    Full Text Available So far, it has been suggested that phosphoenolpyruvate carboxylases (PEPCs and PEPC kinases (PPCKs fulfill several important non-photosynthetic functions. However, the biological functions of soybean PPCKs, especially in alkali stress response, are not yet well known. In previous studies, we constructed a Glycine soja transcriptional profile, and identified three PPCK genes (GsPPCK1, GsPPCK2 and GsPPCK3 as potential alkali stress responsive genes. In this study, we confirmed the induced expression of GsPPCK3 under alkali stress and investigated its tissue expression specificity by using quantitative real-time PCR analysis. Then we ectopically expressed GsPPCK3 in Medicago sativa and found that GsPPCK3 overexpression improved plant alkali tolerance, as evidenced by lower levels of relative ion leakage and MDA content and higher levels of chlorophyll content and root activity. In this respect, we further co-transformed the GsPPCK3 and SCMRP genes into alfalfa, and demonstrated the increased alkali tolerance of GsPPCK3-SCMRP transgenic lines. Further investigation revealed that GsPPCK3-SCMRP co-overexpression promoted the PEPC activity, net photosynthetic rate and citric acid content of transgenic alfalfa under alkali stress. Moreover, we also observed the up-regulated expression of PEPC, CS (citrate synthase, H(+-ATPase and NADP-ME genes in GsPPCK3-SCMRP transgenic alfalfa under alkali stress. As expected, we demonstrated that GsPPCK3-SCMRP transgenic lines displayed higher methionine content than wild type alfalfa. Taken together, results presented in this study supported the positive role of GsPPCK3 in plant response to alkali stress, and provided an effective way to simultaneously improve plant alkaline tolerance and methionine content, at least in legume crops.

  16. Ectopic expression of GsPPCK3 and SCMRP in Medicago sativa enhances plant alkaline stress tolerance and methionine content.

    Science.gov (United States)

    Sun, Mingzhe; Sun, Xiaoli; Zhao, Yang; Zhao, Chaoyue; Duanmu, Huizi; Yu, Yang; Ji, Wei; Zhu, Yanming

    2014-01-01

    So far, it has been suggested that phosphoenolpyruvate carboxylases (PEPCs) and PEPC kinases (PPCKs) fulfill several important non-photosynthetic functions. However, the biological functions of soybean PPCKs, especially in alkali stress response, are not yet well known. In previous studies, we constructed a Glycine soja transcriptional profile, and identified three PPCK genes (GsPPCK1, GsPPCK2 and GsPPCK3) as potential alkali stress responsive genes. In this study, we confirmed the induced expression of GsPPCK3 under alkali stress and investigated its tissue expression specificity by using quantitative real-time PCR analysis. Then we ectopically expressed GsPPCK3 in Medicago sativa and found that GsPPCK3 overexpression improved plant alkali tolerance, as evidenced by lower levels of relative ion leakage and MDA content and higher levels of chlorophyll content and root activity. In this respect, we further co-transformed the GsPPCK3 and SCMRP genes into alfalfa, and demonstrated the increased alkali tolerance of GsPPCK3-SCMRP transgenic lines. Further investigation revealed that GsPPCK3-SCMRP co-overexpression promoted the PEPC activity, net photosynthetic rate and citric acid content of transgenic alfalfa under alkali stress. Moreover, we also observed the up-regulated expression of PEPC, CS (citrate synthase), H(+)-ATPase and NADP-ME genes in GsPPCK3-SCMRP transgenic alfalfa under alkali stress. As expected, we demonstrated that GsPPCK3-SCMRP transgenic lines displayed higher methionine content than wild type alfalfa. Taken together, results presented in this study supported the positive role of GsPPCK3 in plant response to alkali stress, and provided an effective way to simultaneously improve plant alkaline tolerance and methionine content, at least in legume crops.

  17. [Isolation and functional analysis of GsTIFY11b relevant to salt and alkaline stress from Glycine soja].

    Science.gov (United States)

    Zhu, Dan; Bai, Xi; Zhu, Yan-Ming; Cai, Hua; Li, Yong; Ji, Wei; Chen, Chao; An, Lin; Zhu, Yi

    2012-02-01

    Using homologous cloning and RT-PCR technology, we isolated a novel TIFY family gene, GsTIFY11b, from Glycine soja L. G07256, a species that is tolerant to saline and alkaline environments. Phylogenetic analysis indicated that GsTIFY11b was closely related to AtTIFY11a with 56% similarity in amino acid identity. Protein sequence analysis showed that GsTIFY11b protein also had conserved TIFY domain, N-terminal domain, and a C-terminal Jas motif. Quantitative realtime PCR analysis indicated that the expression of GsTIFY11b was induced by both saline and alkaline stresses. Two homozygous GsTIFY11b over-expressing transgenic Arabidopsis lines were obtained. Phenotypic analysis of the transgenic and wild-type Arabidopsis indicated that over-expressing GsTIFY11b in Arabidopsis did not enhance plant tolerance to saline and alkaline stresses, whereas it showed an increased sensitivity to saline stress during seed germination and seedling development. Expression analysis of saline stress response marker genes in transgenic and wild-type plants under stress condition indicated that GsTIFY11b regulated the expression of RD29B, KIN1, and DREB. The transient expression of a GsTIFY11b-GFP fusion protein in onion epidermal cells showed that GsTIFY11b was localized to the nucleus, suggesting a role as a transcriptional regulator in the saline stress response pathway.

  18. 下垂体腺腫におけるGsα遺伝子変異の検討

    OpenAIRE

    大竹, 啓之; 三木, 伸泰; 小野, 昌美; 堀, 智勝; 高野, 加寿恵; OHTAKE, Hiroyuki; MIKI, Nobuhiro; ONO, Masami; HORI, Tomokatsu; TAKANO, Kazue

    2007-01-01

    Activating mutations of the Gsα protein coupled to the growth hormone-releasing hormone (GRH) receptor contribute to the genesis of growth hormone (GH)-secreting pituitary adenomas. However, the reported prevalence of these Gsα mutations in Japan varies considerably among institutions. We investigated the prevalence of the Gsα mutations in 133 pituitary adenomas, including 58 GH-secreting tumors, using RT-PCR and direct cDNA sequencing. Gsα mutations were present in 23 GH-secreting adenomas, ...

  19. Hyponatremia - A rare complication of Gitelman's syndrome

    Science.gov (United States)

    Ganguli, A.; Veis, J. H.

    2017-01-01

    Gitelman's syndrome (GS) is a rare autosomal recessive disorder caused by mutations in thiazide-sensitive NaCl cotransporter. We report a 49-year-old, normotensive lady with prolonged hypokalemia since her 20s who was diagnosed with GS at our renal clinic. During follow-up, she was found to have mild, asymptomatic, euvolemic hyponatremia with low serum uric acid, inappropriately high urine osmolality and sodium consistent with syndrome of inappropriate antidiuretic hormone-like presentation. Despite life-long urinary sodium losses, hyponatremia has rarely been reported in GS to be due to the primary disease process. We present relevant clinical data and hypothesize on why this disease per se may be a risk factor for dilutional hyponatremia. PMID:28182047

  20. 5 CFR 531.217 - Special conversion rules for certain non-GS employees.

    Science.gov (United States)

    2010-01-01

    ... 5 Administrative Personnel 1 2010-01-01 2010-01-01 false Special conversion rules for certain non... SERVICE REGULATIONS PAY UNDER THE GENERAL SCHEDULE Determining Rate of Basic Pay Setting Pay When Appointment Or Position Changes § 531.217 Special conversion rules for certain non-GS employees. When...

  1. Crystal structure of the β2 adrenergic receptor-Gs protein complex

    Energy Technology Data Exchange (ETDEWEB)

    Rasmussen, Søren G.F.; DeVree, Brian T; Zou, Yaozhong; Kruse, Andrew C; Chung, Ka Young; Kobilka, Tong Sun; Thian, Foon Sun; Chae, Pil Seok; Pardon, Els; Calinski, Diane; Mathiesen, Jesper M; Shah, Syed T.A.; Lyons, Joseph A; Caffrey, Martin; Gellman, Samuel H; Steyaert, Jan; Skiniotis, Georgios; Weis, William I; Sunahara, Roger K; Kobilka, Brian K [Brussels; (Trinity); (Michigan); (Stanford-MED); (Michigan-Med); (UW)

    2011-12-07

    G protein-coupled receptors (GPCRs) are responsible for the majority of cellular responses to hormones and neurotransmitters as well as the senses of sight, olfaction and taste. The paradigm of GPCR signalling is the activation of a heterotrimeric GTP binding protein (G protein) by an agonist-occupied receptor. The β2 adrenergic receptor (β2AR) activation of Gs, the stimulatory G protein for adenylyl cyclase, has long been a model system for GPCR signalling. Here we present the crystal structure of the active state ternary complex composed of agonist-occupied monomeric β2AR and nucleotide-free Gs heterotrimer. The principal interactions between the β2AR and Gs involve the amino- and carboxy-terminal α-helices of Gs, with conformational changes propagating to the nucleotide-binding pocket. The largest conformational changes in the β2AR include a 14Å outward movement at the cytoplasmic end of transmembrane segment 6 (TM6) and an α-helical extension of the cytoplasmic end of TM5. The most surprising observation is a major displacement of the α-helical domain of Gαs relative to the Ras-like GTPase domain. This crystal structure represents the first high-resolution view of transmembrane signalling by a GPCR.

  2. Anti-amyloidogenic Activity of IgGs Contained in Normal Plasma

    Science.gov (United States)

    Williams, Angela D.; McWilliams-Koeppen, Helen P.; Acero, Luis; Weber, Alfred; Ehrlich, Hartmut; Schwarz, Hans P.; Solomon, Alan

    2010-01-01

    Introduction We have previously shown that a subpopulation of naturally occurring human IgGs has therapeutic potential for the amyloid-associated disorders. These molecules cross-react with conformational epitopes on amyloidogenic assemblies, including amyloid beta (Aβ) protein fibrils that are a pathological hallmark of Alzheimer’s disease. Materials and Methods Using our europium-linked immunosorbant assay, we established that ∼95% of 260 screened donor plasma samples had amyloid fibril-reactive IgGs and Aβ conformer-reactive IgGs with minimal binding to Aβ monomers. Anti-amyloidogenic reactivity was diverse and attributed to Aβ targeting multiple fibril-related binding sites and/or variations in multidentate binding. Results and Discussion There was no correlation between anti-fibril and anti-oligomer reactivity and donor age (19 to 60 years old) or gender. These findings demonstrate the inherent but diverse anti-amyloidogenic activity of natural IgGs contained in normal plasma. Conclusion Our studies provide support for investigating the clinical significance and physiological function of this novel class of antibodies. PMID:20405179

  3. Stellarator Microinstability and Turbulence Simulations Using Gyrofluid (GryfX) and Gyrokinetic (GS2) Codes

    Science.gov (United States)

    Martin, Mike; Landreman, Matt; Mandell, Noah; Dorland, William

    2016-10-01

    GryfX is a delta-f code that evolves the gyrofluid set of equations using sophisticated nonlinear closures, with the option to evolve zonal flows (ky =0) kinetically. Since fluid models require less memory to store than a kinetic model, GryfX is ideally suited and thus written to run on a Graphics Processing Unit (GPU), yielding about a 1,200 times performance advantage over GS2. Here we present the first stellarator simulations using GryfX. Results compare linear growth rates of the Ion Temperature Gradient (ITG) mode between GryfX and the gyrokinetic code, GS2, using stellarator geometries from the National Compact Stellarator Experiment (NCSX) and Wendelstein 7-X (W7X). Strong agreement of <10% for maximum growth rates is observed between GS2 and GryfX for temperature gradients away from marginal stability for both NCSX and W7X geometries. Nonlinear stellarator results using GS2/GryfX are also presented.

  4. The New Lexus Luxury Sports Sedan GS300 Limited Special Edition Comes to China

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Lexus China recently announced that the luxury sports sedan GS300 limited special edition will be launched in China’s market. Only 140 units will be sold in China, with a MSRP of 649,000 yuan ($98,333).

  5. The 2015 hard-state only outburst of GS 1354-64

    CERN Document Server

    Stiele, H

    2016-01-01

    Since its outburst in 1997 GS 135-64 stayed in quiescence. In June 2015 renewed activity of GS 1354-64 was observed. Based on our analysis of energy spectra and timing properties obtained from Swift/XRT monitoring data we found that GS 1354-64 stayed in the hard state during the entire outburst. Such a hard state only (or "failed" outburst) has also been observed in 1997. In addition, we analysed an XMM-Newton observation taken on August 6th. We compared variability on long and short time scales using covariance ratio and found that the ratio showed a decrease towards lower energies instead of the increase that has been found in other black hole X-ray binaries. There are now two sources (H 1743-322 and GS 1354-64) that do not show an increase towards lower energies in their covariance ratio. Both sources have been observed during "failed" outbursts and showed photon indices much harder than what is usually observed in black hole X-ray binaries.

  6. Effects of glutamine and asparagine on recombinant antibody production using CHO-GS cell lines.

    Science.gov (United States)

    Xu, Ping; Dai, Xiao-Ping; Graf, Erica; Martel, Richard; Russell, Reb

    2014-01-01

    A unique and nontraditional approach using glutamine and asparagine supplements for CHO-glutamine synthetase (GS) cell lines was studied. In our experiments, we found that a decrease in pH and an increase in cell death occurred in production phase of a GS cell line, leading to reduced antibody expression and lower antibody yields. The experimental results and the statistical analysis (ANOVA) indicated that additions of glutamine and asparagine in the basal and feed media were effective to buffer the cell culture pH, reduce lactate generation, maintain a higher cell viability profile, and improve antibody productivity. In bench-top bioreactors, glutamine and asparagine supplementation helped to prevent cell death, improve antibody yield, and reduce base usage. Glutamine is normally excluded from culture media for GS cell lines to prevent the bypass of selection pressure. In this study, however, the addition of glutamine did not affect cell population homogeneity, protein quality, or decrease antibody yield of two GS cell lines.

  7. HMW-GS affect the properties of glutenin particles in GMP and thus flour quality

    NARCIS (Netherlands)

    Don, C.; Mann, G.; Bekes, F.; Hamer, R.J.

    2006-01-01

    Using a unique set of deletion lines, (Olympic×Gabo, varying in high molecular weight glutenin subunit (HMW-GS) composition, but with the same genetic background) it was shown that the presence of glutenin particles in glutenin macropolymer (GMP) is directly related to the presence of certain

  8. GS Soil - Assessment and strategic development of INSPIRE compliant Geodata-Services for European Soil Data

    DEFF Research Database (Denmark)

    Krogh, Paul Henning; Münier, Bernd

    in Annex II and III. According to this, the thematic focus of GS Soil is set on soil as an important parameter according to climate, land use, geology and geomorphology. At the same time soils are the basis for food production and consumer health, for the ecological and economical balance and for many...

  9. Exploring salivary microbiota in AIDS patients with different periodontal statuses using 454 GS-FLX Titanium pyrosequencing

    Directory of Open Access Journals (Sweden)

    Fang eZhang

    2015-07-01

    Full Text Available Patients with acquired immunodeficiency syndrome (AIDS are at high risk of opportunistic infections. Oral manifestations have been associated with the level of immunosuppression, these include periodontal diseases, and understanding the microbial populations in the oral cavity is crucial for clinical management. The aim of this study was to examine the salivary bacterial diversity in patients newly admitted to the AIDS ward of the Public Health Clinical Center (China. Saliva samples were collected from fifteen patients with AIDS who were randomly recruited between December 2013 and March 2014. Extracted DNA was used as template to amplify bacterial 16S rRNA. Sequencing of the amplicon library was performed using a 454 GS-FLX Titanium sequencing platform. Reads were optimized and clustered into operational taxonomic units for further analysis. A total of 10 bacterial phyla (106 genera were detected. Firmicutes, Bacteroidetes and Proteobacteria were preponderant in the salivary microbiota in AIDS patients. The pathogen, Capnocytophaga sp., and others not considered pathogenic such as Neisseria elongata, Streptococcus mitis and Mycoplasma salivarium but which may be opportunistic infective agents were detected. Dialister pneumosintes, Eubacterium infirmum, Rothia mucilaginosa and Treponema parvum were preponderant in AIDS patients with periodontitis. Patients with necrotic periodontitis had a distinct salivary bacterial profile from those with chronic periodontitis. This is the first study using advanced sequencing techniques focused on hospitalized AIDS patients showing the diversity of their salivary microbiota.

  10. Ganser-like Syndrome After Loss of Psychic Self-activation Syndrome: Psychogenic or Organic?

    Science.gov (United States)

    Kaphan, Elsa; Barbeau, Emmanuel; Royère, Marie L.; Guedj, Eric; Pelletier, Jean; Ali Chérif, André

    2014-01-01

    Very few data are available on the long-term changes in the cognitive abilities of patients with loss of psychic self-activation syndrome (LPSAS). Here, we present a 25-year follow-up study on a case of LPSAS resulting from bilateral pallidal lesions caused by carbon monoxide intoxication. Typical signs of LPSAS were observed, showing no changes in severity, but Ganser syndrome (GS) gradually developed and worsened during the follow-up period. GS is generally assumed to be a psychogenic syndrome, but an organic etiology has been suspected by the authors of several case reports. Here, atypical features of GS plead against the independence of GS and LPSAS. DaTSCAN and brain 18FDG-PET were performed. Since left hippocampal hypometabolism has been previously described in patients with functional amnesia, it is possible that long periods of mental inactivity may have psychological consequences, but the atypical features of GS also suggest that an organic mechanism may be involved. PMID:25280796

  11. Smit Textile GS900 Rapier Loom Weaves the Future%Smit Textile GS900剑杆织机编织未来

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    作为织机技术的领导者,Smit Textile集多年的丰富经验,精心打造出GS900剑杆织机。这种新型织机备有动态控制的挠性剑带.并采用了降低纬纱和经纱受力的多项科研成果.使得织机可以高品质、高效率织造众多种类和支数的纱线。

  12. Gsα deficiency in adipose tissue improves glucose metabolism and insulin sensitivity without an effect on body weight.

    Science.gov (United States)

    Li, Yong-Qi; Shrestha, Yogendra B; Chen, Min; Chanturiya, Tatyana; Gavrilova, Oksana; Weinstein, Lee S

    2016-01-12

    Gsα, the G protein that transduces receptor-stimulated cAMP generation, mediates sympathetic nervous system stimulation of brown adipose tissue (BAT) thermogenesis and browning of white adipose tissue (WAT), which are both potential targets for treating obesity, as well as lipolysis. We generated a mouse line with Gsα deficiency in mature BAT and WAT adipocytes (Ad-GsKO). Ad-GsKO mice had impaired BAT function, absent browning of WAT, and reduced lipolysis, and were therefore cold-intolerant. Despite the presence of these abnormalities, Ad-GsKO mice maintained normal energy balance on both standard and high-fat diets, associated with decreases in both lipolysis and lipid synthesis. In addition, Ad-GsKO mice maintained at thermoneutrality on a standard diet also had normal energy balance. Ad-GsKO mice had improved insulin sensitivity and glucose metabolism, possibly secondary to the effects of reduced lipolysis and lower circulating fatty acid binding protein 4 levels. Gsα signaling in adipose tissues may therefore affect whole-body glucose metabolism in the absence of an effect on body weight.

  13. Improved method for reliable HMW-GS identification by RP-HPLC and SDS-PAGE in common wheat cultivars

    Science.gov (United States)

    The accurate identification of alleles for high-molecular weight glutenins (HMW-GS) is critical for wheat breeding programs targeting end-use quality. RP-HPLC methods were optimized for separation of HMW-GS, resulting in enhanced resolution of 1By and 1Dx subunits. Statistically significant differe...

  14. Perfluorocarbons and Gilbert syndrome (phenotype) in the C8 Health Study Population

    Energy Technology Data Exchange (ETDEWEB)

    Fan, Hongmin [Cancer Center, School of Public Health, West Virginia University, Morgantown, WV 265050-9190 (United States); Department of Epidemiology and Statistics, School of Public Health, Hebei United University, Hebei 063000 (China); Ducatman, Alan [Department of Occupational and Environmental Health, School of Public Health, West Virginia University (United States); Department of Medicine, School of Medicine, West Virginia University (United States); Clinical Translational Science Institute, West Virginia University (United States); Zhang, Jianjun [Department of Biostatistics, School Public Health, West Virginia University (United States)

    2014-11-15

    Background: Gilbert syndrome (GS) is an inherited defect of bilirubin conjugation, most commonly caused by a gene mutation for the enzyme UGT1A. GS is known to affect the metabolism and excretion of drugs and xenobiotics. Perfluorocarbon compounds (PFCs) are bio-persistent environmental contaminants that affect metabolic regulation. In this study, we examined the associations of GS phenotype and serum PFCs in the C8 Health Study Population. Materials and methods: Using 2005–2006 data from a large PFC-exposure population survey, we compared serum PFCs concentrations between GS and non GS clinical phenotypes, in a cross sectional design, adjusting for standard risk factors, including age, BMI, smoking status, socioeconomic status and gender. Results: Among 10 PFC compounds considered, only perfluorohexanoic acid (PFHxA) was seen at a significantly higher concentration in GS men and women. Conclusion: PFHxA exposure may be associated with GS. Our findings do not support increased exposure in GS for other PFCs. - Highlights: • Most serum PFCs are not associated with clinically evident Gilbert syndrome. • However, serum perfluorohexanoic acid is positively associated. • The investigation addresses the clinical presentation, not the genetic mutation.

  15. Non-apical membrane antigen 1 (AMA1 IgGs from Malian children interfere with functional activity of AMA1 IgGs as judged by growth inhibition assay.

    Directory of Open Access Journals (Sweden)

    Kazutoyo Miura

    Full Text Available BACKGROUND: Apical membrane antigen 1 (AMA1 is one of the best-studied blood-stage malaria vaccine candidates. When an AMA1 vaccine was tested in a malaria naïve population, it induced functionally active antibodies judged by Growth Inhibition Assay (GIA. However, the same vaccine failed to induce higher growth-inhibitory activity in adults living in a malaria endemic area. Vaccination did induce functionally active antibodies in malaria-exposed children with less than 20% inhibition in GIA at baseline, but not in children with more than that level of baseline inhibition. METHODS: Total IgGs were purified from plasmas collected from the pediatric trial before and after immunization and pools of total IgGs were made. Another set of total IgGs was purified from U.S. adults immunized with AMA1 (US-total IgG. From these total IgGs, AMA1-specific and non-AMA1 IgGs were affinity purified and the functional activity of these IgGs was evaluated by GIA. Competition ELISA was performed with the U.S.-total IgG and non-AMA1 IgGs from malaria-exposed children. RESULTS: AMA1-specific IgGs from malaria-exposed children and U.S. vaccinees showed similar growth-inhibitory activity at the same concentrations. When mixed with U.S.-total IgG, non-AMA1 IgGs from children showed an interference effect in GIA. Interestingly, the interference effect was higher with non-AMA1 IgGs from higher titer pools. The non-AMA1 IgGs did not compete with anti-AMA1 antibody in U.S.-total IgG in the competition ELISA. CONCLUSION: Children living in a malaria endemic area have a fraction of IgGs that interferes with the biological activity of anti-AMA1 antibody as judged by GIA. While the mechanism of interference is not resolved in this study, these results suggest it is not caused by direct competition between non-AMA1 IgG and AMA1 protein. This study indicates that anti-malaria IgGs induced by natural exposure may interfere with the biological effect of antibody induced by an AMA1

  16. Discovery of Dihydrobenzoxazepinone (GS-6615) Late Sodium Current Inhibitor (Late INai), a Phase II Agent with Demonstrated Preclinical Anti-Ischemic and Antiarrhythmic Properties.

    Science.gov (United States)

    Zablocki, Jeff A; Elzein, Elfatih; Li, Xiaofen; Koltun, Dmitry O; Parkhill, Eric Q; Kobayashi, Tetsuya; Martinez, Ruben; Corkey, Britton; Jiang, Haibo; Perry, Thao; Kalla, Rao; Notte, Gregory T; Saunders, Oliver; Graupe, Michael; Lu, Yafan; Venkataramani, Chandru; Guerrero, Juan; Perry, Jason; Osier, Mark; Strickley, Robert; Liu, Gongxin; Wang, Wei-Qun; Hu, Lufei; Li, Xiao-Jun; El-Bizri, Nesrine; Hirakawa, Ryoko; Kahlig, Kris; Xie, Cheng; Li, Cindy Hong; Dhalla, Arvinder K; Rajamani, Sridharan; Mollova, Nevena; Soohoo, Daniel; Lepist, Eve-Irene; Murray, Bernard; Rhodes, Gerry; Belardinelli, Luiz; Desai, Manoj C

    2016-10-03

    Late sodium current (late INa) is enhanced during ischemia by reactive oxygen species (ROS) modifying the Nav 1.5 channel, resulting in incomplete inactivation. Compound 4 (GS-6615, eleclazine) a novel, potent, and selective inhibitor of late INa, is currently in clinical development for treatment of long QT-3 syndrome (LQT-3), hypertrophic cardiomyopathy (HCM), and ventricular tachycardia-ventricular fibrillation (VT-VF). We will describe structure-activity relationship (SAR) leading to the discovery of 4 that is vastly improved from the first generation late INa inhibitor 1 (ranolazine). Compound 4 was 42 times more potent than 1 in reducing ischemic burden in vivo (S-T segment elevation, 15 min left anteriorior descending, LAD, occlusion in rabbits) with EC50 values of 190 and 8000 nM, respectively. Compound 4 represents a new class of potent late INa inhibitors that will be useful in delineating the role of inhibitors of this current in the treatment of patients.

  17. Digital post-calibration of a 5-bit 1.25 GS/s flash ADC

    Institute of Scientific and Technical Information of China (English)

    杨阳; 赵显利; 仲顺安; 李国峰

    2012-01-01

    We report a high-speed flash analog to digital converter (ADC) linearization technique employing the inverse Volterra model and digital post processing.First,a 1.25 GS/s 5-bit flash ADC is designed using a 0.18μm CMOS,and the signal is quantized by a distributed track-and-hold circuit.Second,based on the Volterra series,a proposed digital post-calibration model is introduced.Then,the model is applied to estimate and compensate the nonlinearity of the high-speed flash ADC.Simulation results indicate that the distortion is reduced effectively.Specifically,the ADC achieves gains of 4.83 effective bits for a 117.1 MHz frequency input and 4.74 effective bits for a Nyquist input at 1.25 GS/s.

  18. 高清诱惑:WinFast PX×7900GS TDH显卡

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    想体验1080P的高清视频的用户一定别错过丽台PX7900GS TDH显卡。它通过了HDCP官方认证.是目前少有的真正通过HDCP认证的产品。PX7900GS TDH能为播放蓝光加密光盘提供优化.对于高清玩家来说.它是一个高品质的新选择。这款显卡采用超薄设计.所以并不会占用其他PCI-E插槽的位置,

  19. BeppoSAX observation of the transient X-ray pulsar GS 1843+00

    CERN Document Server

    Piraino, S; Segreto, A; Giarrusso, S; Cusumano, G; Del Sordo, S; Robba, N R; Dal Fiume, D; Orldini, M; Oosterbroek, T; Parmar, A N; Palermo, DSFA

    2000-01-01

    We present the results from both the timing and spectroscopic analysis of the transient X-ray pulsar GS 1843+00 observed by the BeppoSAX satellite on 1997 April 4, when the source was at a luminosity of ~10^{37} erg s^{-1}. GS 1843+00 shows a very hard spectrum that is well fitted by an absorbed power law (N_H \\~2.3 10^{22} cm^{-2}) modified by a high energy cut-off above 6 keV. The source shows a small pulse amplitude in the whole energy band. The pulse profile evolves with energy from a double-peaked to single-peaked shape. The barycentric pulse period is 29.477+/-0.001 s.

  20. Complete genome sequence of Streptococcus mutans GS-5, a serotype c strain.

    Science.gov (United States)

    Biswas, Saswati; Biswas, Indranil

    2012-09-01

    Streptococcus mutans, a principal causative agent of dental caries, is considered to be the most cariogenic among all oral streptococci. Of the four S. mutans serotypes (c, e, f, and k), serotype c strains predominate in the oral cavity. Here, we present the complete genome sequence of S. mutans GS-5, a serotype c strain originally isolated from human carious lesions, which is extensively used as a laboratory strain worldwide.

  1. Complete Genome Sequence of Streptococcus mutans GS-5, a Serotype c Strain

    OpenAIRE

    Biswas, Saswati; Biswas, Indranil

    2012-01-01

    Streptococcus mutans, a principal causative agent of dental caries, is considered to be the most cariogenic among all oral streptococci. Of the four S. mutans serotypes (c, e, f, and k), serotype c strains predominate in the oral cavity. Here, we present the complete genome sequence of S. mutans GS-5, a serotype c strain originally isolated from human carious lesions, which is extensively used as a laboratory strain worldwide.

  2. The Research of Petroleum Enterprise Information System Architecture Based on the G/S Model

    Science.gov (United States)

    Rui, Liu; Xirong, Guo; Fang, Miao

    This paper explains the petroleum engineering technologies of petroleum enterprise supported by G/S model, which combine process of exploring, developing, and transporting of petroleum enterprise, these key technologies with spatial information technology supported by Digital Earth Platform, resulting in the improvement of the scientificity, accuracy, and rationality of the petroleum engineering technologies and the reduction of the cost and the increase of the benefits.

  3. Further evidence supporting a role for gs signal transduction in severe malaria pathogenesis.

    Directory of Open Access Journals (Sweden)

    Sarah Auburn

    Full Text Available With the functional demonstration of a role in erythrocyte invasion by Plasmodium falciparum parasites, implications in the aetiology of common conditions that prevail in individuals of African origin, and a wealth of pharmacological knowledge, the stimulatory G protein (Gs signal transduction pathway presents an exciting target for anti-malarial drug intervention. Having previously demonstrated a role for the G-alpha-s gene, GNAS, in severe malaria disease, we sought to identify other important components of the Gs pathway. Using meta-analysis across case-control and family trio (affected child and parental controls studies of severe malaria from The Gambia and Malawi, we sought evidence of association in six Gs pathway candidate genes: adenosine receptor 2A (ADORA2A and 2B (ADORA2B, beta-adrenergic receptor kinase 1 (ADRBK1, adenylyl cyclase 9 (ADCY9, G protein beta subunit 3 (GNB3, and regulator of G protein signalling 2 (RGS2. Our study amassed a total of 2278 cases and 2364 controls. Allele-based models of association were investigated in all genes, and genotype and haplotype-based models were investigated where significant allelic associations were identified. Although no significant associations were observed in the other genes, several were identified in ADORA2A. The most significant association was observed at the rs9624472 locus, where the G allele (approximately 20% frequency appeared to confer enhanced risk to severe malaria [OR = 1.22 (1.09-1.37; P = 0.001]. Further investigation of the ADORA2A gene region is required to validate the associations identified here, and to identify and functionally characterize the responsible causal variant(s. Our results provide further evidence supporting a role of the Gs signal transduction pathway in the regulation of severe malaria, and request further exploration of this pathway in future studies.

  4. Behind the scenes of GS: each to his own lock and key

    CERN Multimedia

    Anaïs Schaeffer

    2014-01-01

    The GS-ASE team in charge of access control has an access solution for every type of premises, from radiation-controlled areas to simple administrative offices.   Although CERN is unquestionably open to the world, some of its doors must remain closed for a simple reason: as an industrial site, it must put safety and security at the top of its priorities and control access to certain areas in order to protect people and property from hazards. The AC (Access Control) section of the GS-ASE group uses a range of access control tools as the type of restrictions varies considerably according to the type of premises or area concerned: the requirements at the entrances to the different CERN sites may be quite different, for example, to those at the entrances to a specific building, a storage area, a workshop or an experiment hall within the fenced part of the CERN site. “We use different types of access systems at CERN”, explains Rui Nunes, head of the GS-ASE-AC section. &ldq...

  5. Myelopoiesis is regulated by osteocytes through Gsα-dependent signaling

    Science.gov (United States)

    Fulzele, Keertik; Krause, Daniela S.; Panaroni, Cristina; Saini, Vaibhav; Barry, Kevin J.; Liu, Xiaolong; Lotinun, Sutada; Baron, Roland; Bonewald, Lynda; Feng, Jian Q.; Chen, Min; Weinstein, Lee S.; Wu, Joy Y.; Kronenberg, Henry M.; Scadden, David T.

    2013-01-01

    Hematopoietic progenitors are regulated in their respective niches by cells of the bone marrow microenvironment. The bone marrow microenvironment is composed of a variety of cell types, and the relative contribution of each of these cells for hematopoietic lineage maintenance has remained largely unclear. Osteocytes, the most abundant yet least understood cells in bone, are thought to initiate adaptive bone remodeling responses via osteoblasts and osteoclasts. Here we report that these cells regulate hematopoiesis, constraining myelopoiesis through a Gsα-mediated mechanism that affects G-CSF production. Mice lacking Gsα in osteocytes showed a dramatic increase in myeloid cells in bone marrow, spleen, and peripheral blood. This hematopoietic phenomenon was neither intrinsic to the hematopoietic cells nor dependent on osteoblasts but was a consequence of an altered bone marrow microenvironment imposed by Gsα deficiency in osteocytes. Conditioned media from osteocyte-enriched bone explants significantly increased myeloid colony formation in vitro, which was blocked by G-CSF–neutralizing antibody, indicating a critical role of osteocyte-derived G-CSF in the myeloid expansion. PMID:23160461

  6. Geoacoustic inversion techniques (GAIT) Version 1.0 global search (GS)

    Science.gov (United States)

    Neumann, Peter; Muncill, Gregory

    2003-04-01

    Geoacoustic Inversion Techniques (GAIT) Version 1.0 is a PEO (C4I and Space) PMW 155 funded product that accepts measured acoustic data and produces an optimized estimate of the bottom environment that produced the observed acoustic data. The Global Search (GS) segment of GAIT pairs the Adaptive Simulated Annealing (ASA) algorithm with a variety of Navy standard propagation loss models (PE, ASTRAL and Nautilus) and an active sonar performance prediction model (ASPM). The goal of the GS segment of GAIT is to provide a best estimate of the geoacoustic properties of the ocean bottom that, when paired with a selected model, result in the observed acoustic data. An overview of the GS segment of GAIT 1.0 will be presented with details on the ASA algorithm, component models, cost functions and geoacoustic parametrizations. Inversion results will be shown for synthetic test cases from the Inversion Technique Workshop (ITW) held in May 2001 and from both narrowband and broadband measured data test cases. [Work supported by PEO (C4I and Space) PMW 155 and uses the products of a Phase I and II SBIR from the ONR (Code 321US).

  7. Gs/Gi Regulation of Bone Cell Differentiation: Review and Insights from Engineered Receptors.

    Science.gov (United States)

    Hsiao, E C; Millard, S M; Nissenson, R A

    2016-11-01

    G-protein coupled receptors (GPCRs) and their ligands are critical for normal osteoblast formation and function. GPCRs mediate a wide variety of biological processes and are activated by multiple types of extracellular signals, ranging from photons to small molecules to peptides. GPCRs signal through a select number of canonical pathways: the Gs and Gi pathways increase or decrease intracellular cAMP levels, respectively, by acting on adenylate cyclase, while the Gq pathway increases intracellular calcium by activating phospholipase C. In addition, non-canonical GPCR pathways such as β-arrestin activation are important for osteoblast function. Since many cells express multiple GPCRs, and each individual GPCR may activate multiple signaling pathways, the resulting combinatorial signal provides a mechanism for regulating complex biological processes and effector functions. However, the wide variety of GPCRs, the possibility of multiple receptors acting with signaling redundancy, and the possibility of an individual GPCR activating multiple signaling pathways, also pose challenges for elucidating the role of a particular GPCR. Here, we briefly review the roles of Gs and Gi GPCR signaling in osteoblast function. We describe the successful application of a strategy for directly manipulating the Gs and Gi pathways using engineered receptors. These powerful tools will allow further elucidation of the roles of GPCR signaling in specific lineages of osteoblastic cells, as well as in non-osteoblast cells, all of which remain critical areas of active research. © Georg Thieme Verlag KG Stuttgart · New York.

  8. Hard X-ray Tail Discovered in the Clocked Burster GS 1826-238

    CERN Document Server

    Rodi, James; Roques, Jean-Pierre

    2015-01-01

    The LMXB NS GS 1826-238 was discovered by Ginga in 1988 September. Due to the presence of quasi-periodicity in the type I X-ray burst rate, the source has been a frequent target of X-ray observations for almost 30 years. Though the bursts were too soft to be detected by INTEGRAL/SPI, the persistent emission from GS 1826-238 was detected over 150 keV during the ~10 years of observations. Spectral analysis found a significant high-energy excess above a Comptonization model that is well fit by a power law, indicating an additional spectral component. Most previously reported spectra with hard tails in LMXB NS have had an electron temperature of a few keV and a hard tail dominating above ~50 keV with an index of \\Gamma ~ 2-3. GS 1826-238 was found to have a markedly different spectrum with $ kT_e \\sim 20 $ keV and a hard tail dominating above ~150 keV with an index of \\Gamma ~ 1.8, more similar to BHXRB. We report on our search for long-term spectral variability over the 25-370 keV energy range and on a compariso...

  9. OptGS: An R Package for Finding Near-Optimal Group-Sequential Designs

    Directory of Open Access Journals (Sweden)

    James Wason

    2015-08-01

    Full Text Available A group-sequential clinical trial design is one in which interim analyses of the data are conducted after groups of patients are recruited. After each interim analysis, the trial may stop early if the evidence so far shows the new treatment is particularly effective or ineffective. Such designs are ethical and cost-effective, and so are of great interest in practice. An optimal group-sequential design is one which controls the type-I error rate and power at a specified level, but minimizes the expected sample size of the trial when the true treatment effect is equal to some specified value. Searching for an optimal group- sequential design is a significant computational challenge because of the high number of parameters. In this paper the R package OptGS is described. Package OptGS searches for near-optimal and balanced (i.e., one which balances more than one optimality criterion group-sequential designs for randomized controlled trials with normally distributed outcomes. Package OptGS uses a two-parameter family of functions to determine the stopping boundaries, which improves the speed of the search process whilst still allow- ing flexibility in the possible shape of stopping boundaries. The resulting package allows optimal designs to be found in a matter of seconds much faster than a previous approach.

  10. Proteolytic activity of IgGs from blood serum of wistar rats at experimental rheumatoid arthritis

    Directory of Open Access Journals (Sweden)

    Yu. Ya. Kit

    2014-10-01

    Full Text Available The aim of this work was to study the proteolytic activity of IgGs purified from blood serum of Wistar rats at experimental rheumatoid arthritis (ERA induced by an injection of bovine collagen of type II. Twenty rats were immunized with a preparation of bovine collagen II (Sigma-Aldrich, USA in the presence of complete Freund’s adjuvant. ERA development was determined by inflammation in limbs of treated animals. IgG preparations were isolated from blood serum of immunized and non-immunized animals by precipitation of antibodies with 33% ammonium sulfate followed by chromatography on the Protein G-Sepharose column. Human histone H1, bovine collagen II, calf thymus histones, myelin basic protein (MBP, bovine serum albumin (BSA, and bovine casein were used as substrates of the proteolytic activity of IgGs. It was found that IgG preparations from blood serum of rats with ERA were capable of cleaving histone H1 and MBP, however, they were catalytically inactive towards collagen II, casein, BSA, and core histones. IgGs from blood serum of non-immunized rats were proteolytically inactive towards all used protein substrates. Thus, we demonstrated that immunization of rats with bovine collagen II induced IgG-antibodies possessing the proteolytic activity towards histone H1 and MBP. This activity might be associated with the development of inflammatory processes in the immunized rats.

  11. Benchmarking of the Gyrokinetic Microstability Codes GYRO, GS2, and GEM

    Science.gov (United States)

    Bravenec, Ronald; Chen, Yang; Wan, Weigang; Parker, Scott; Candy, Jeff; Barnes, Michael; Howard, Nathan; Holland, Christopher; Wang, Eric

    2012-10-01

    The physics capabilities of modern gyrokinetic microstability codes are now so extensive that they cannot be verified fully for realistic tokamak plasmas using purely analytic approaches. Instead, verification (demonstrating that the codes correctly solve the gyrokinetic-Maxwell equations) must rely on benchmarking (comparing code results for identical plasmas and physics). Benchmarking exercises for a low-power DIII-D discharge at the mid-radius have been presented recently for the Eulerian codes GYRO and GS2 [R.V. Bravenec, J. Candy, M. Barnes, C. Holland, Phys. Plasmas 18, 122505 (2011)]. This work omitted ExB flow shear, but we include it here. We also present GYRO/GS2 comparisons for a high-power Alcator C-Mod discharge. To add further confidence to the verification exercises, we have recently added the particle-in-cell (PIC) code GEM to the efforts. We find good agreement of linear frequencies between GEM and GYRO/GS2 for the DIII-D plasma. We also present preliminary nonlinear comparisons. This benchmarking includes electromagnetic effects, plasma shaping, kinetic electrons and one impurity. In addition, we compare linear results among the three codes for the steep-gradient edge region of a DIII-D plasma between edge-localized modes.

  12. A novel Fe(III) dependent bioflocculant from Klebsiella oxytoca GS-4-08: culture conditions optimization and flocculation mechanism

    Science.gov (United States)

    Yu, Lei; Tang, Qing-wen; Zhang, Yu-jia; Chen, Rong-ping; Liu, Xin; Qiao, Wei-chuan; Li, Wen-wei; Ruan, Hong-hua; Song, Xin

    2016-01-01

    In this work, the effect of cultivation factors on the flocculation efficiency (FE) of bioflocculant P-GS408 from Klebsiella oxytoca was optimized by the response surface methodology. The most significant factor, i.e. culture time, was determined by gray relational analysis. A total of 240 mg of purified P-GS408 was prepared from 1 liter of culture solution under the optimal conditions. GC-MS analysis results indicated that the polysaccharide of P-GS408 mainly contains Rhamnose and Galactose, and the existence of abundant hydroxyl, carboxyl and amino groups was evidenced by FTIR and XPS analyses. With the aid of Fe3+, the FE of kaolin solution by P-GS408 could achieve 99.48% in ten minutes. Functional groups of polysaccharide were involved in the first adsorption step and the zeta potential of kaolin solution changed from −39.0 mV to 43.4 mV in the presence of Fe3+ and P-GS408. Three-dimensional excitation-emission (EEM) fluorescence spectra demonstrates that the trivalent Fe3+ and Al3+ can bind efficiently with P-GS408, while those univalent and divalent cations cannot. With the help of SEM images, FTIR, zeta potential and EEM spectra, we proposed the P-GS408 flocculation mechanism, which consists of coordination bond combination, charge neutrality, adsorption and bridging, and net catching. PMID:27713559

  13. Genome sequencing and annotation of Laceyella sacchari strain GS 1-1, isolated from hot spring, Chumathang, Leh, India

    Directory of Open Access Journals (Sweden)

    Navjot Kaur

    2014-12-01

    Full Text Available We report the 3.3-Mb draft genome of Laceyella sacchari strain GS 1-1, isolated from hot spring water sample, Chumathang, Leh, India. Draft genome of strain GS 1-1 consists of 3, 324, 316 bp with a G + C content of 48.8% and 3429 predicted protein coding genes and 75 RNAs. Geobacillus thermodenitrificans strain NG80-2, Geobacillus kaustophilus strain HTA426 and Geobacillus sp. Strain G11MC16 are the closest neighbors of the strain GS 1-1.

  14. Hyperemesis Gravidarum in Undiagnosed Gitelman’s Syndrome

    Directory of Open Access Journals (Sweden)

    Maria Czarina Acelajado

    2016-01-01

    Full Text Available Introduction. Gitelman’s syndrome (GS is an autosomal recessive inherited defect in the thiazide-sensitive sodium-chloride cotransporter (NCCT in the renal distal convoluted tubule. Physiologic changes of pregnancy promote renal potassium wasting, but serum potassium levels are kept in the physiologic range by increased levels of progesterone, which resist kaliuresis. In the presence of GS, this compensatory mechanism is easily overwhelmed, resulting in profound hypokalemia. We present a case of an 18-year-old primigravida with undiagnosed GS who presented with hyperemesis gravidarum in her 7th week of pregnancy. This report adds to the limited experience with GS in pregnancy as reported in literature and provides additional information on medical management that leads to successful maternal and fetal outcomes.

  15. Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association

    Science.gov (United States)

    Halwai, Hemant Kumar

    2017-01-01

    Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits. Dextrocardia or pulmonary hypoplasia in GS has previously been reported separately. We report a 7-year-old female child of GS with combination of anomalies, dextrocardia, and pulmonary hypoplasia, which is a rare association. PMID:28377826

  16. CPP5Gs 全自动倾点浊点测试仪故障分析与维护%Faults analysis and maintenance of CPP5Gs

    Institute of Scientific and Technical Information of China (English)

    李建辉; 赵亮; 范晓兰; 张江峰

    2015-01-01

    介绍了 CPP5Gs 工作原理、操作条件,并对在使用过程出现的光学检测等问题进行了分析和应对,对温度探头校正进行了阐述。%This paper introduced CPP5Gs work principle,operation condition,analyzed the common faults and discussed the maintence.

  17. A high-yielding, generic fed-batch process for recombinant antibody production of GS-engineered cell lines

    DEFF Research Database (Denmark)

    Fan, Li; Zhao, Liang; Sun, Yating;

    2009-01-01

    An animal component-free and chemically defined fed-batch process for GS-engineered cell lines producing recombinant antibodies has been developed. The fed-batch process relied on supplying sufficient nutrients to match their consumption, simultaneously minimizing the accumulation of byproducts....... This generic and high-yielding fed-batch process would shorten development time, and ensure process stability, thereby facilitating the manufacture of therapeutic antibodies by GS-engineered cell lines....

  18. [Acquired and developmental Gerstmann syndrome. Illustration from a patient with multiple sclerosis].

    Science.gov (United States)

    Ehrlé, N; Maarouf, A; Chaunu, M-P; Sabbagh-Peignot, S; Bakchine, S

    2012-11-01

    Gerstmann's syndrome (GS) is defined by a clinical tetrad including acalculia, finger anomia, left-right disorientation and agraphia. In this article, we describe the case of a 42-year-old woman suffering from an aggressive relapsing-remitting multiple sclerosis in which a systematic neuropsychological assessment revealed Gertsmann's syndrome amongst other cognitive disturbances. Brain MRI showed a high concentration of plaques within a left subcortical parietal region that has recently been considered as a crucial node for GS appearance. However, history, taking provided information suggesting that an important part of the GS, may have been present since childhood, evoking a possible neurodevelopmental origin in this patient. This article reviews the role of the GS concept in contemporary literature, with a special attention to pathophysiological hypotheses and to precautions necessary to study such cases.

  19. Glutathione preservation during storage of rat lenses in optisol-GS and castor oil.

    Directory of Open Access Journals (Sweden)

    Thomas Holm

    Full Text Available BACKGROUND: Glutathione concentration in the lens decreases in aging and cataractous lenses, providing a marker for tissue condition. Experimental procedures requiring unfrozen lenses from donor banks rely on transportation in storage medium, affecting lens homeostasis and alterations in glutathione levels. The aim of the study was to examine the effects of Optisol-GS and castor oil on lens condition, determined from their ability to maintain glutathione concentrations. METHODOLOGY/PRINCIPAL FINDINGS: Rat lenses were stored in the two types of storage media at varying time intervals up to 3 days. Glutathione concentration was afterwards determined in an enzymatic detection assay, specific for both reduced and oxidized forms. Lenses removed immediately after death exhibited a glutathione concentration of 4.70±0.29 mM. In vitro stored lenses in Optisol-GS lost glutathione quickly, ending with a concentration of 0.60±0.34 mM after 3 days while castor oil stored lenses exhibited a slower decline and ended at 3 times the concentration. A group of lenses were additionally stored under post mortem conditions within the host for 6 hours before its removal. Total glutathione after 6 hours was similar to that of lenses removed immediately after death, but with altered GSH and GSSG concentrations. Subsequent storage of these lenses in media showed changes similar to those in the first series of experiments, albeit to a lesser degree. CONCLUSIONS/SIGNIFICANCE: It was determined that storage in Optisol-GS resulted in a higher loss of glutathione than lenses stored in castor oil. Storage for more than 12 hours reduced glutathione to half its original concentration, and was considered unusable after 24 hours.

  20. Glutathione Preservation during Storage of Rat Lenses in Optisol-GS and Castor Oil

    Science.gov (United States)

    Holm, Thomas; Brøgger-Jensen, Martin Rocho; Johnson, Leif; Kessel, Line

    2013-01-01

    Background Glutathione concentration in the lens decreases in aging and cataractous lenses, providing a marker for tissue condition. Experimental procedures requiring unfrozen lenses from donor banks rely on transportation in storage medium, affecting lens homeostasis and alterations in glutathione levels. The aim of the study was to examine the effects of Optisol-GS and castor oil on lens condition, determined from their ability to maintain glutathione concentrations. Methodology/Principal Findings Rat lenses were stored in the two types of storage media at varying time intervals up to 3 days. Glutathione concentration was afterwards determined in an enzymatic detection assay, specific for both reduced and oxidized forms. Lenses removed immediately after death exhibited a glutathione concentration of 4.70±0.29 mM. In vitro stored lenses in Optisol-GS lost glutathione quickly, ending with a concentration of 0.60±0.34 mM after 3 days while castor oil stored lenses exhibited a slower decline and ended at 3 times the concentration. A group of lenses were additionally stored under post mortem conditions within the host for 6 hours before its removal. Total glutathione after 6 hours was similar to that of lenses removed immediately after death, but with altered GSH and GSSG concentrations. Subsequent storage of these lenses in media showed changes similar to those in the first series of experiments, albeit to a lesser degree. Conclusions/Significance It was determined that storage in Optisol-GS resulted in a higher loss of glutathione than lenses stored in castor oil. Storage for more than 12 hours reduced glutathione to half its original concentration, and was considered unusable after 24 hours. PMID:24260265

  1. Comparing the accuracy of ES-BC, EIS-GS, and ES Oxi on body composition, autonomic nervous system activity, and cardiac output to standardized assessments

    Directory of Open Access Journals (Sweden)

    Lewis JE

    2011-09-01

    < 0.001. Absolute agreement was found at baseline and after both bouts of exercise; ES Oxi overestimated baseline and stage 1 exercise cardiac output by 0.3 L/minute and 0.1 L/minute, respectively, but exactly estimated stage 2 exercise cardiac output. Conclusion: ES-BC and ES Oxi accurately assessed body composition and cardiac output compared to standardized instruments, whereas EIS-GS showed marginal predictive ability for autonomic nervous system activity. The ESC software managing the three devices would be useful to help detect complications related to metabolic syndrome, diabetes, and cardiovascular disease and to noninvasively and rapidly manage treatment follow-up. Keywords: fat mass, autonomic nervous system activity, Electro Sensor Complex, dual-energy X-ray absorptiometry, heart rate variability, and bioimpedance cardiography

  2. Scheie syndrome

    Science.gov (United States)

    ... Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo syndrome) Causes Scheie syndrome ... Autosomal recessive Cloudy cornea Hearing loss Hurler syndrome Morquio syndrome Review Date 4/20/2015 Updated by: ...

  3. Influence of induction hardening parameters on the GS30Mn5 weld properties

    Directory of Open Access Journals (Sweden)

    V. Marušić

    2016-10-01

    Full Text Available This study examines parameters of post-weld heat treatment on the test specimens made of cast steel GS30Mn5. The welding is performed with shielded metal arc welding (SMAW process. The aim is to obtain the surface without illicit cracks, with hardness ranging from 320 up to 400 HB. After induction heating, the specimens are cooled alternately with air and water. Decreased speed of quenching results in avoiding the occurrence of illicit splashes, while the hardness is maintained within the prescribed limits.

  4. Endogenous RGS proteins modulate SA and AV nodal functions in isolated heart: implications for sick sinus syndrome and AV block.

    Science.gov (United States)

    Fu, Ying; Huang, Xinyan; Piao, Lin; Lopatin, Anatoli N; Neubig, Richard R

    2007-05-01

    G protein-coupled receptors play a pivotal role in regulating cardiac automaticity. Their function is controlled by regulator of G protein signaling (RGS) proteins acting as GTPase-activating proteins for Galpha subunits to suppress Galpha(i) and Galpha(q) signaling. Using knock-in mice in which Galpha(i2)-RGS binding and negative regulation are disrupted by a genomic Galpha(i2)G184S (GS) point mutation, we recently (Fu Y, Huang X, Zhong H, Mortensen RM, D'Alecy LG, Neubig RR. Circ Res 98: 659-666, 2006) showed that endogenous RGS proteins suppress muscarinic receptor-mediated bradycardia. To determine whether this was due to direct regulation of cardiac pacemakers or to alterations in the central nervous system or vascular responses, we examined isolated, perfused hearts. Isoproterenol-stimulated beating rates of heterozygote (+/GS) and homozygote (GS/GS) hearts were significantly more sensitive to inhibition by carbachol than were those of wild type (+/+). Even greater effects were seen in the absence of isoproterenol; the potency of muscarinic-mediated bradycardia was enhanced fivefold in GS/GS and twofold in +/GS hearts compared with +/+. A(1)-adenosine receptor-mediated bradycardia was unaffected. In addition to effects on the sinoatrial node, +/GS and GS/GS hearts show significantly increased carbachol-induced third-degree atrioventricular (AV) block. Atrial pacing studies demonstrated an increased PR interval and AV effective refractory period in GS/GS hearts compared with +/+. Thus loss of the inhibitory action of endogenous RGS proteins on Galpha(i2) potentiates muscarinic inhibition of cardiac automaticity and conduction. The severe carbachol-induced sinus bradycardia in Galpha(i2)G184S mice suggests a possible role for alterations of Galpha(i2) or RGS proteins in sick sinus syndrome and pathological AV block.

  5. 不同基因型大豆GS1基因的克隆与分析%Cloning and analysis of GS1 genes from different soybean varieties

    Institute of Scientific and Technical Information of China (English)

    陈丽华; 刘丽君; 刘页丽; 裴宇峰; 祖伟

    2011-01-01

    GS1 genes from six different soybean varieties were cloned. The compare analysis of gene sequence showed that: sequence of GS1 genes from different soybean varieties were very identical. GS1 gene sequence from different soybean varieties still existed distinct difference which site mostly in non-coding region. Molecular evolutionary tree showed that evolution distance of GS1 genes sequence from DN42 and G.gracili were relatively near, they all had two conserved domains, catalyse domain (Gln-synt_N)and combine domain (Gln-synt_C), and showed that they all had function of catalyse. Molecular evolution tree showed that evolution distance of GS, protein sequence of DN42 and DN46 was near, KF9 and HN35 was near. GSl genome sequence of DN42 was cloned. The forecast result through NetGene2 software, Dot metrix function of DNAMan software and NCBI online spidey software showed that this gene had 12 exons and 11 introns, the flank sequence of exon were all accord with GT, AG rule.%克隆了6个不同基因型大豆的GS1基因,序列比对分析结果表明,不同基因型大豆的GS1基因序列相似性较高.不同基因型大豆GS1基因序列间仍存在显著的差异,主要集中在非编码区.GS1基因分子进化树显示东农42、半野生大豆基因序列进化距离较近.不同基因型大豆GS1蛋白质序列具有很高的相似性,并且都具有两个保守的结构域、催化结构域(Gln-synt_N)和结合结构域(Gln-synt_C),说明它们都具有催化功能.GS1蛋白质序列的分子进化树显示东农46和东农42 GS1蛋白质序列进化距离较近,垦丰9和黑农35 GS1蛋白质序列进化距离较近.克隆了东农42 GS1基因的基因组序列,NetGene2软件、DNAMan软件的Dot metrix功能和NCBI在线spidey软件预测和分析结果表明,该基因具有12个外显子和11个内含子,外显子侧翼序列都符合GT、AG规则.

  6. 一种基于NP4GS3的增强SRED算法%An Enhanced SRED Algorithm Based on NP4GS3

    Institute of Scientific and Technical Information of China (English)

    文宏; 王润云; 李仲宇; 唐玉华

    2006-01-01

    作为一种典型的AQM算法,SRED采用一种负载相关的概率来丢弃报文,使得路由器队列长度处于一个较低的稳定值,从而获得相对稳定的网络延时.但SRED算法在设计初始丢弃概率函数时不能保证函数曲线的平稳过渡,这将导致路由器队列长度不稳定以及不必要地丢弃报文.对SRED算法的缺陷进行了理论分析,在此基础上设计了一种增强的SRED算法:E-SRED;同时,分析了AQM机制在IBM的网络处理器NP4GS3中的实现机制,提出了E-SRED算法在NP上的实现方案,给出了方案实现的完整伪码描述.图4,参11.

  7. Isolation and characterization of a GS2 gene in melon (Cucumis melo L.) and its expression patterns under the fertilization of different forms of N.

    Science.gov (United States)

    Deng, Yang-Wu; Zhang, Yi-Dong; Chen, Yi; Wang, Shu; Tang, Dong-Mei; Huang, Dan-Feng

    2010-01-01

    We isolated a novel glutamine synthetase (GS, EC 6.3.1.2) gene M-GS2 (accession: AY773090) by the RACE approach from melon. The full-length cDNA of M-GS2 is 1807 bp and contains a 1296 bp open reading frame (ORF) encoding 432 amino acids. The deduced protein contains conserved structural domains among plant GS2 proteins and shares extensive sequence homology with GS2 enzymes from other higher plants. M-GS2 expresses with specificity in leaf, and identification of a chloroplast transit peptide (cTP) in M-GS2 suggests that it localizes to the chloroplast. As shown by real-time quantitative PCR, distinct forms of nitrogen (N) found in fertilizers transcriptionally regulated M-GS2 differently. Ammonium and nitrate feeding only significantly regulated M-GS2 transcripts in leaf; starving (0.75 mM) or moderate (3.75 mM) N levels dramatically increased M-GS2 transcripts for 1 day, decreasing to a constant low level after 2-3 days, while sufficient N level (7.5 mM) had a minor effect throughout 3 days compared to controls. Glutamate feeding, however, not only significantly regulated M-GS2 transcripts in leaf (decreased initially then increased to higher levels than controls), but also in root, where it was up-regulated continuously. Our results suggested that M-GS2 is the first GS gene cloned and characterized in melon and melon responds to the variations in N fertilization by differentially expressing M-GS2.

  8. PeGS: Perturbed Gibbs Samplers that Generate Privacy-Compliant Synthetic Data

    Directory of Open Access Journals (Sweden)

    Yubin Park

    2014-12-01

    Full Text Available This paper proposes a categorical data synthesizer algorithm that guarantees a quantifiable disclosure risk. Our algorithm, named Perturbed Gibbs Sampler (PeGS, can handle high-dimensional categorical data that are intractable if represented as contingency tables. PeGS involves three intuitive steps: 1 disintegration, 2 noise injection, and 3 synthesis. We first disintegrate the original data into building blocks that (approximately capture essential statistical characteristics of the original data. This process is efficiently implemented using feature hashing and non-parametric distribution approximation. In the next step, an optimal amount of noise is injected into the estimated statistical building blocks to guarantee differential privacy or l-diversity. Finally, synthetic samples are drawn using a Gibbs sampler approach. California Patient Discharge data are used to demonstrate statistical properties of the proposed synthetic methodology. Marginal and conditional distributions as well as regression coefficients obtained from the synthesized data are compared to those obtained from the original data. Intruder scenarios are simulated to evaluate disclosure risks of the synthesized data from multiple angles. Limitations and extensions of the proposed algorithm are also discussed.

  9. Glycation of polyclonal IgGs: Effect of sugar excipients during stability studies.

    Science.gov (United States)

    Leblanc, Y; Bihoreau, N; Jube, M; Andre, M-H; Tellier, Z; Chevreux, G

    2016-05-01

    A number of intravenous immunoglobulin preparations are stabilized with sugar additives that may lead over time to undesirable glycation reactions especially in liquid formulation. This study aimed to evaluate the reactivity of sugar excipients on such preparations in condition of temperature, formulation and concentration commonly used for pharmaceutical products. Through an innovative LC-MS method reported to characterize post-translational modifications of IgGs Fc/2 fragments, a stability study of IVIg formulated with reducing and non-reducing sugars has been undertaken. The rate of polyclonal IgGs glycation was investigated during 6months at 5, 25, 30 and 40°C. High levels of glycation were observed with reducing sugars such as glucose and maltose in the first months of the stability study from 25°C. Non-reducing sugars presented a low reactivity even at the highest tested temperature (40°C). Furthermore, a site by site analysis was performed by MS/MS to determine the glycation sites which were mainly identified at Lys246, Lys248 and Lys324. This work points out the high probability of glycation reactions in some commercialized products and describes a useful method to characterize IVIg glycated products issued from reducing sugar excipients.

  10. The HI supershell GS 118+01-44 and its role in the interstellar medium

    CERN Document Server

    Suad, L A; Noriega-Crespo, A; Arnal, E M; Testori, J C; Flagey, N

    2016-01-01

    We carry out a multiwavelength study to characterize the HI supershell designated GS 118+01-44, and to analyse its possible origin. A multiwavlength study has been carried out to study the supershell and its environs. We performed an analysis of the HI, CO, radio continuum, and infrared emission distributions. The Canadian Galactic Plane Survey (CGPS) HI data reveals that GS 118+01-44 is centred at (l, b) = (117.7, 1.4) with a systemic velocity of -44.3 km/s. According to Galactic rotation models this structure is located at 3.0 +- 0.6 kpc from the Sun. There are several HII regions and three supernova remnants (SNRs) catalogued in the region. On the other hand, the analysis of the temperature spectral index distribution shows that in the region there is a predominance of non-thermal emission. Infrared emission shows that cool temperatures dominate the area of the supershell. Concerning the origin of the structure, we found that even though several OB stars belonging to Cas OB5 are located in the interior of ...

  11. Behind the scenes of GS: a long-term urban planning vision

    CERN Multimedia

    Corinne Pralavorio

    2014-01-01

    The GS Department is working on a long-term plan for the urban planning of the CERN sites, ensuring that their development takes place using a coherent approach and keeping in mind the need for harmonious integration in the surrounding area.   Visitors are often bemused by CERN’s buildings, with their 1950s style and a layout that seems to defy all logic. Up until the 90s, buildings were erected as accelerators were built, with no apparent concern for harmony. But now, with a much larger number of users and installations, space is at a premium, getting around the site is difficult and urban planners are needed more than ever. "Over 9,000 people enter the CERN sites every day and we have 7,500 workstations," says Frédéric Magnin, Civil Engineering and Buildings Section Leader in the GS Department. For this reason, specialists in the department have been working on the development of the sites for five years. It is especially important that the...

  12. Overexpression of Gs proteins and adenylyl cyclase in normal and diabetic islets.

    Science.gov (United States)

    Portela-Gomes, Guida M; Abdel-Halim, Samy M

    2002-08-01

    Knowledge about the relation between G proteins and adenylyl cyclases (ACs) is important for the construction of signaling paradigms to increase our understanding of signal transduction in the normal state and its alterations in pathologic states, such as type-2 diabetes. The immunocytochemical expression patterns of the stimulatory Gs proteins (G alpha-s and G alpha-olf) and the in vitro Ca2+-stimulated ACs (AC1, 3, and 8) were studied in normal and spontaneously diabetic Goto-Kakizaki (GK) rat pancreatic islets with use of well-characterized antibodies. The expressions of G alpha-11 and AC2, abundant in pancreatic islets, were also studied. G alpha-s and G alpha-olf were mainly expressed in insulin cells, and G alpha-11 in glucagon cells. The immunoreactivity to G alpha-s and G alpha-olf and to AC1 and AC3 was higher in the GK islets than in the controls, whereas AC8 was found only in the diabetic islets. Strong G alpha-11 and AC2 immunoreactivity was seen equally in both animal groups. G alpha-s was colocalized with all ACs, whereas G alpha-olf was mainly colocalized with AC3, and G alpha-11 with AC1. The current findings may help in drawing a more specific signaling paradigm coupling Gs proteins to ACs.

  13. GS3: A Knowledge Management Architecture for Collaborative Geologic Sequestration Modeling

    Energy Technology Data Exchange (ETDEWEB)

    Gorton, Ian; Black, Gary D.; Schuchardt, Karen L.; Sivaramakrishnan, Chandrika; Wurstner, Signe K.; Hui, Peter SY

    2010-01-10

    Modern scientific enterprises are inherently knowledge-intensive. In general, scientific studies in domains such as groundwater, climate, and other environmental modeling as well as fundamental research in chemistry, physics, and biology require the acquisition and manipulation of large amounts of experimental and field data in order to create inputs for large-scale computational simulations. The results of these simulations must then be analyzed, leading to refinements of inputs and models and further simulations. In this paper we describe our efforts in creating a knowledge management platform to support collaborative, wide-scale studies in the area of geologic sequestration. The platform, known as GS3 (Geologic Sequestration Software Suite), exploits and integrates off-the-shelf software components including semantic wikis, content management systems and open source middleware to create the core architecture. We then extend the wiki environment to support the capture of provenance, the ability to incorporate various analysis tools, and the ability to launch simulations on supercomputers. The paper describes the key components of GS3 and demonstrates its use through illustrative examples. We conclude by assessing the suitability of our approach for geologic sequestration modeling and generalization to other scientific problem domains

  14. Activating mutations of the Gs alpha-gene in nonfunctioning pituitary tumors.

    Science.gov (United States)

    Tordjman, K; Stern, N; Ouaknine, G; Yossiphov, Y; Razon, N; Nordenskjöld, M; Friedman, E

    1993-09-01

    The majority of pituitary tumors are of monoclonal origin; however, the molecular basis for their formation is poorly understood. Somatic mutations in the alpha-subunit of the GTP-binding protein, Gs alpha (gsp oncogene) have been found in about one third of GH-secreting tumors. Mutations in another alpha-subunit of a GTP-binding protein, Gi2 alpha (gip mutations) have been described in other endocrine tumors. In this study, we examined 21 nonfunctioning pituitary tumors and 4 macroprolactinomas for gsp mutations and 27 nonfunctioning tumors and 4 macroprolactinomas for gip mutations. Using the polymerase chain reaction and denaturing gradient gel electrophoresis, 2 nonfunctioning pituitary tumors displayed migration abnormalities when the Gs alpha-gene was analyzed. Sequence analysis of these abnormally migrating polymerase chain reaction products revealed two previously known gsp mutations: arginine at codon 201 altered to cysteine, and glutamine at codon 227 changed to leucine. No gip mutations could be demonstrated. These findings emphasize the monoclonal origin of nonfunctioning pituitary tumors and suggest that cAMP may play a role in tumorigenesis of nonfunctioning pituitary tumors.

  15. Effect of HMW-GS 5+10 on Quality Parameters in Four Leading Wheat Cultivars

    Institute of Scientific and Technical Information of China (English)

    ZHANG Yan-bin; SUN Lian-fa; XIN Wen-li; SONG Qin-jie; ZHANG Chun-li; ZHAO Hai-bin; XIAO Zhi-min; QI Shi-yu

    2003-01-01

    HMW-GS 5+ 10 was introduced to four major wheat cultivars Kehan9, Kefeng3, Longmai20and Kenda4 through 5 or 6 consecutive backcrosses. No significant difference in protein content and dry glutencontent was observed between cultivars containing 5+ 10 and 2+ 12 or 3+12 (P>0. 1). In cuitivars contai-ning HMW-GS 5 +10, the ratio of wet gluten content to dry gluten content was 2.9 -5.0 % (P<0.01) lowerthan the ratio from the cultivars containing 2+ 12 or 3+12, the ratio of Zeleny sedimentation volume to drygluten content was 4.5 - 13.4% (P<0. 05) higher. The degree of softening in cuitivars having 5+10 was 15- 25 FU (P<0.01) lower, while the maximum resistance was 82 - 193 EU (P<0.05) higher. Backcrosseswith biochemical marker assisted selection in the improvement of quality in wheat cultivars was discussed.

  16. Overexpression of GsZFP1 enhances salt and drought tolerance in transgenic alfalfa (Medicago sativa L.).

    Science.gov (United States)

    Tang, Lili; Cai, Hua; Ji, Wei; Luo, Xiao; Wang, Zhenyu; Wu, Jing; Wang, Xuedong; Cui, Lin; Wang, Yang; Zhu, Yanming; Bai, Xi

    2013-10-01

    GsZFP1 encodes a Cys2/His2-type zinc-finger protein. In our previous study, when GsZFP1 was heterologously expressed in Arabidopsis, the transgenic Arabidopsis plants exhibited enhanced drought and cold tolerance. However, it is still unknown whether GsZFP1 is also involved in salt stress. GsZFP1 is from the wild legume Glycine soja. Therefore, the aims of this study were to further elucidate the functions of the GsZFP1 gene under salt and drought stress in the forage legume alfalfa and to investigate its biochemical and physiological functions under these stress conditions. Our data showed that overexpression of GsZFP1 in alfalfa resulted in enhanced salt tolerance. Under high salinity stress, greater relative membrane permeability and malondialdehyde (MDA) content were observed and more free proline and soluble sugars accumulated in transgenic alfalfa than in the wild-type (WT) plants; in addition, the transgenic lines accumulated less Na(+) and more K(+) in both the shoots and roots. Overexpression of GsZFP1 also enhanced the drought tolerance of alfalfa. The fold-inductions of stress-responsive marker gene expression, including MtCOR47, MtRAB18, MtP5CS, and MtRD2, were greater in transgenic alfalfa than those of WT under drought stress conditions. In conclusion, the transgenic alfalfa plants generated in this study could be used for farming in salt-affected as well as arid and semi-arid areas. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  17. Score System Study for Hand-Extended Noodle Quality Based on HMW-GS Index in Wheat Flour

    Institute of Scientific and Technical Information of China (English)

    KANG Zhi-yu; WANG Jian-jun; SHANG Xun-wu

    2007-01-01

    Hand-extended noodle, a special kind of noodle, requires particular quality flour to make it. High molecular weight glutenin subunits (HMW-GS) in wheat are important protein subunits, which affect flour quality. To improve breeding and selection efficiency of wheat varieties which are used in making hand-extended noodle, 100 spring wheat varieties were selected to study the importance of HMW-GS on noodle quality score indexes such as color, appearance, taste agreeability, toughness, stickiness, smoothness, taste, and total score, through methods of quantity theory and statistic evaluation. It was shown that the hand-extended noodle quality score of HMW-GS 1, 2*, N, 7, 7 + 8, 17 + 18, 22, 2 + 10, 2 +11, 2+ 12, 5 + 10, and 10 was 5.40, 5.35, 0, 2.55, 2.56, 9.19, 0.05, 0.15, 1.49, 1.14, 10.00, and 5.14, respectively. The score system for hand-extended noodle quality based on HMW-GS index included eight multiple linear regression equations (R2 > 0.98).Hence, using the HMW-GS composition, the eight hand-extended noodle quality indexes would be forecasted exactly.Results indicated that ideal subunit compositions of HMW-GS for this special usage were composition 1, 17 + 18, 5 + 10, or composition 2*, 17 + 18, 5 + 10. This standard could be used on variety selection in the early generation of breeding crosses. HMW-GS 2 + 10, 2 + 11, and 2 + 12 were the least desirable subunits for hand-extended noodle, which should be avoided in wheat variety selection aimed for hand-extended noodle flour use.

  18. Gsα enhances commitment of mesenchymal progenitors to the osteoblast lineage but restrains osteoblast differentiation in mice.

    Science.gov (United States)

    Wu, Joy Y; Aarnisalo, Piia; Bastepe, Murat; Sinha, Partha; Fulzele, Keertik; Selig, Martin K; Chen, Min; Poulton, Ingrid J; Purton, Louise E; Sims, Natalie A; Weinstein, Lee S; Kronenberg, Henry M

    2011-09-01

    The heterotrimeric G protein subunit Gsα stimulates cAMP-dependent signaling downstream of G protein-coupled receptors. In this study, we set out to determine the role of Gsα signaling in cells of the early osteoblast lineage in vivo by conditionally deleting Gsα from osterix-expressing cells. This led to severe osteoporosis with fractures at birth, a phenotype that was found to be the consequence of impaired bone formation rather than increased resorption. Osteoblast number was markedly decreased and osteogenic differentiation was accelerated, resulting in the formation of woven bone. Rapid differentiation of mature osteoblasts into matrix-embedded osteocytes likely contributed to depletion of the osteoblast pool. In addition, the number of committed osteoblast progenitors was diminished in both bone marrow stromal cells (BMSCs) and calvarial cells of mutant mice. In the absence of Gsα, expression of sclerostin and dickkopf1 (Dkk1), inhibitors of canonical Wnt signaling, was markedly increased; this was accompanied by reduced Wnt signaling in the osteoblast lineage. In summary, we have shown that Gsα regulates bone formation by at least two distinct mechanisms: facilitating the commitment of mesenchymal progenitors to the osteoblast lineage in association with enhanced Wnt signaling; and restraining the differentiation of committed osteoblasts to enable production of bone of optimal mass, quality, and strength.

  19. High frequency of HMW-GS sequence variation through somatic hybridization between Agropyron elongatum and common wheat.

    Science.gov (United States)

    Gao, Xin; Liu, Shu Wei; Sun, Qun; Xia, Guang Min

    2010-01-01

    A symmetric somatic hybridization was performed to combine the protoplasts of tall wheatgrass (Agropyron elongatum) and bread wheat (Triticum aestivum). Fertile regenerants were obtained which were morphologically similar to tall wheatgrass, but which contained some introgression segments from wheat. An SDS-PAGE analysis showed that a number of non-parental high-molecular weight glutenin subunits (HMW-GS) were present in the symmetric somatic hybridization derivatives. These sequences were amplified, cloned and sequenced, to deliver 14 distinct HMW-GS coding sequences, eight of which were of the y-type (Hy1-Hy8) and six x-type (Hx1-Hx6). Five of the cloned HMW-GS sequences were successfully expressed in E. coli. The analysis of their deduced peptide sequences showed that they all possessed the typical HMW-GS primary structure. Sequence alignments indicated that Hx5 and Hy1 were probably derived from the tall wheatgrass genes Aex5 and Aey6, while Hy2, Hy3, Hx1 and Hy6 may have resulted from slippage in the replication of a related biparental gene. We found that both symmetric and asymmetric somatic hybridization could promote the emergence of novel alleles. We discussed the origination of allelic variation of HMW-GS genes in somatic hybridization, which might be the result from the response to genomic shock triggered by the merger and interaction of biparent genomes.

  20. Draft genome sequencing of giardia intestinalis assemblage B isolate GS: is human giardiasis caused by two different species?

    Directory of Open Access Journals (Sweden)

    Oscar Franzén

    2009-08-01

    Full Text Available Giardia intestinalis is a major cause of diarrheal disease worldwide and two major Giardia genotypes, assemblages A and B, infect humans. The genome of assemblage A parasite WB was recently sequenced, and the structurally compact 11.7 Mbp genome contains simplified basic cellular machineries and metabolism. We here performed 454 sequencing to 16x coverage of the assemblage B isolate GS, the only Giardia isolate successfully used to experimentally infect animals and humans. The two genomes show 77% nucleotide and 78% amino-acid identity in protein coding regions. Comparative analysis identified 28 unique GS and 3 unique WB protein coding genes, and the variable surface protein (VSP repertoires of the two isolates are completely different. The promoters of several enzymes involved in the synthesis of the cyst-wall lack binding sites for encystation-specific transcription factors in GS. Several synteny-breaks were detected and verified. The tetraploid GS genome shows higher levels of overall allelic sequence polymorphism (0.5 versus <0.01% in WB. The genomic differences between WB and GS may explain some of the observed biological and clinical differences between the two isolates, and it suggests that assemblage A and B Giardia can be two different species.

  1. Identification of calcium/calmodulin-binding receptor-like kinase GsCBRLK-interactive proteins using yeast two-hybrid system%酵母双杂交筛选与GsCBRLK相互作用的蛋白质

    Institute of Scientific and Technical Information of China (English)

    杨姗姗; 孙晓丽; 于洋; 才华; 纪巍; 柏锡; 朱延明

    2013-01-01

    GsCBRLK(calcium/calmodulin-binding receptor-like kinase from Glycine soja)在ABA及盐胁迫诱导的钙离子信号通路中起到关键的调节作用.为深入研究GsCBRLK蛋白的作用机制,文章采用膜酵母双杂交系统,以GsCBRLK为诱饵蛋白,筛选与其相互作用的蛋白质.通过构建野生大豆盐胁迫条件下的cDNA文库、膜酵母双杂交系统筛选、复筛、回转验证、生物信息学分析以及酵母体内互作验证等手段,最终获得2个(SNARE和14-3-3蛋白)与GsCBRLK诱饵蛋白相互作用的蛋白质.%GsCBRLK (calcium/calmodulin-binding receptor-like kinase from Glycine soja) links ABA (abscisic acid)-and salt-induced calcium/calmodulin signal in plant cells. In order to study the molecular mechanismes of GsCBLRK, the salt-treated Glycine soja cDNA library was screened with pB73-STE-CBRLK as bait plasmid using yeast two hybrid system. Two positive clones (SNARE and 14-3-3 protein) were identified by constructing cDNA library of wild soybean under salt treatment, membrane system yeast two hybrid screening, multiple screen, rotary validation, bioinformatic analysis and interaction identification in yeast.

  2. A spatial sampling based 13.3 Gs/s sample-and-hold circuit.

    Science.gov (United States)

    Sun, Jiwei; Wang, Haibo; Wang, Pingshan

    2014-09-01

    This paper presents a high-speed sample-and-hold circuit (SHC) for very fast signal analysis. Spatial sampling techniques are exploited with CMOS transmission lines in a 0.13 μm standard CMOS process. The SHC includes on chip coplanar waveguides for signal and clock pulse transmission, a clock pulse generator, and three elementary samplers periodically (L = 7.2 mm) placed along the signal propagation line. The SHC samples at 13.3 Gs/s. The circuit occupies an area of 1660 μm × 820 μm and consumes ~6 mW at a supply voltage of 1.2 V. The obtained input bandwidth is ~11.5 GHz.

  3. Observations of Type i X-Ray Bursts from GS 1826-238 with RXTE

    Science.gov (United States)

    Lewin, Walter

    Type I X-ray bursts are the result of thermonuclear flashes on the surface of accreting neutron stars. The spectral lines which are expected in the X-ray spectra of the bursts will allow for a direct measurement of the gravitational redshift from the surface of the neutron stars (one of the holy grails in physics). XMM-Newton has the potential of detecting such lines. We have been awarded 200 ksec observations with XMM-Newton of the X-ray burster GS 1826-238. During this time we expect to observe ten X-ray bursts and to accumulate about 40,000 high-spectral resolution burst counts with the RGS, and roughly 2 Mcounts with EPIC-PN. We are requesting simultaneous observations with RXTE to obtain essential information about the underlying continuum spectrum.

  4. The hard X-ray shortages prompted by the clock bursts in GS 1826--238

    CERN Document Server

    Long, Ji; YuPeng, Chen; Shuang-Nan, Zhang; Diego, Torres F; Peter, Kretschmar; Jian, Li

    2013-01-01

    We report on a study of GS 1826--238 using all available {\\it RXTE} observations, concentrating on the behavior of the hard X-rays during type-I bursts. We find a hard X-ray shortage at 30--50 keV promoted by the shower of soft X-rays coming from type-I bursts. This shortage happens with a time delay after the peak of the soft flux of 3.6 $\\pm$ 1.2 seconds.The behavior of hard X-rays during bursts indicates cooling and reheating of the corona, during which a large amount of energy is required. We speculate that this energy originates from the feedback of the type-I bursts to the accretion process, resulting in a rapid temporary increase of the accretion rate.

  5. Bursts from GS 1826-238 a clocked thermonuclear flashes generator

    CERN Document Server

    Ubertini, P; Cocchi, M; Natalucci, L; Heise, J; Müller, J M; in 't Zand, J J M

    1999-01-01

    The transient X-ray source GS 1826-238 was monitored during five different observing periods between August 1996 and October 1998 with the BeppoSAX Wide Field Camera instrument in the framework of a deep observation of the Galactic Center region. A first detection of X-ray bursts from this source occurred, ruling out its previously suggested black hole candidacy and strongly suggesting the compact object to be a weakly magnetized neutron star. During the 2.5 years of monitoring, corresponding to ~2.0 Ms observing time, 70 bursts were detected from the source. We here report a quasi-periodicity of 5.76 h in the burst occurrence time which is present during all observations. This is the first example of quasi-periodic bursting over a period of years. It is in line with the history of a rather constant flux since the turn on in 1988 and points to a very stable accretion.

  6. Synthesis and high expression of chitin deacetylase from Colletotrichum lindemuthianum in Pichia pastoris GS115.

    Science.gov (United States)

    Kang, Lixin; Chen, Xiaomei; Zhai, Chao; Ma, Lixin

    2012-09-01

    A gene, ClCDA, encoding chitin deacetylase from Colletotrichum lindemuthianum, was optimized according to the codon usage bias of Pichia pastoris and synthesized in vitro by overlap extension PCR. It was secretorily expressed in P. pastoris GS115 using the constitutive expression vector pHMB905A. The expression level reached the highest with 110 mg/l culture supernatant after 72 h of methanol induction, which comprised 77.27 U/mg chitin deacetylase activity. SDS-PAGE, mass spectrometry, and deglycosylation assays demonstrated that partial recombinant protein was glycosylated with an apparent molecular mass of 33 kDa. The amino acid sequences of recombinant proteins were confirmed by mass spectrometry.

  7. Study on forest landscape diversity based on ArcGIS and GS +

    Science.gov (United States)

    Zhang, Yujuan; Qu, Jianguang; Liu, Dandan; Yang, Jinling; Li, Dan

    2015-12-01

    This paper analyses the forest landscape diversity of the study area with the help of ArcGIS10 and GS+ software. The forest landscape diversity and spatial interpolation and spatial differentiation are also carried out. The result shows that the maximum value of SHDI in 1997is 2.0463 and the minimum value is 0.2544 , which are 1.9722 and 0.2418 in the year of 2009. The advantage religion of SHDI mainly distributes in the middle of the study region , showing a band region from southwest to northeast . The forest landscape diversity and the space location have a moderate spatial correlation and a obvious structural under a forest level.

  8. Properties and Mechanism of the Mechanosensitive Ion Channel Inhibitor GsMTx4, a Therapeutic Peptide Derived from Tarantula Venom.

    Science.gov (United States)

    Gottlieb, Philip A; Suchyna, Thomas M; Sachs, Frederick

    2007-01-01

    Mechanosensitive ion channels (MSCs) are found in all types of cells ranging from Escherichia coli to morning glories to humans. They seem to fall into two families: those in specialized receptors, such as the hair cells of the cochlea, and those in cells not clearly differentiated for sensory duty. The physiological function of the channels in nonspecialized cells has not been demonstrated, although their activity has been demonstrated innumerable times in vitro. The only specific reagent to block MSCs isGsMTx4, a 4-kDa peptide isolated from tarantula venom. Despite being isolated from venom, it is nontoxic to mice. GsMTx4 is specific for an MSC subtype, the nonselective cation channels that may be members of the transient receptor potential (TRP) family. GsMTx4 acts as a gating modifier, increasing the energy of the open state relative to the closed state. The mirror image D enantiomer of GsMTx4 is equally active, so mode of action is not via the traditional lock and key model. GsMTx4 probably acts in the boundary lipid of the channel by changing local curvature and mechanically stressing the channel toward the closed state. Despite the lack of definitive physiological data on the function of the cationic MSCs, GsMTx4 may prove useful as a drug or lead compound that can affect physiological processes. These processes would be those driven by mechanical stress, such as blood vessel autoregulation, stress-induced contraction of smooth muscle, and Ca(2+) loading in muscular dystrophy. © 2007, Elsevier Inc. All right reserved.

  9. Anaerobic oxidation of toluene, phenol, and p-cresol by the dissimilatory iron-reducing organism, GS-15

    Science.gov (United States)

    Lovley, D.R.; Lonergan, D.J.

    1990-01-01

    The dissimilatory Fe(III) reducer, GS-15, is the first microorganism known to couple the oxidation of aromatic compounds to the reduction of Fe(III) and the first example of a pure culture of any kind known to anaerobically oxidize an aromatic hydrocarbon, toluene. In this study, the metabolism of toluene, phenol, and p-cresol by GS-15 was investigated in more detail. GS-15 grew in an anaerobic medium with toluene as the sole electron donor and Fe(III) oxide as the electron acceptor. Growth coincided with Fe(III) reduction. [ring-14C]toluene was oxidized to 14CO2, and the stoichiometry of 14CO2 production and Fe(III) reduction indicated that GS-15 completely oxidized toluene to carbon dioxide with Fe(III) as the electron acceptor. Magnetite was the primary iron end product during toluene oxidation. Phenol and p-cresol were also completely oxidized to carbon dioxide with Fe(III) as the sole electron acceptor, and GS-15 could obtain energy to support growth by oxidizing either of these compounds as the sole electron donor. p-Hydroxybenzoate was a transitory extracellular intermediate of phenol and p-cresol metabolism but not of toluene metabolism. GS-15 oxidized potential aromatic intermediates in the oxidation of toluene (benzylalcohol and benzaldehyde) and p-cresol (p-hydroxybenzylalcohol and p-hydroxybenzaldehyde). The metabolism described here provides a model for how aromatic hydrocarbons and phenols may be oxidized with the reduction of Fe(III) in contaminated aquifers and petroleum-containing sediments.

  10. A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.

    Science.gov (United States)

    Lü, Q; Zhang, Y; Song, C; An, Z; Wei, S; Huang, J; Huang, L; Tang, L; Tong, N

    2016-03-01

    Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and hypocalciuria which is caused by mutations in the SLC12A3 gene. In this study, we reported a case of GS pedigree and reviewed pertinent literature so as to explore the relationship between clinical characteristics and genotype meanwhile provide recommendations for the diagnosis and treatment of GS. This is a pedigree-based genetic study of GS and 11 members from one family were included. We summarized their clinical features, analyzed laboratory parameters related to GS and SLC12A3 gene. The proband experienced intermittent severe symptoms of weakness accompanied by significant hypokalemia, hypomagnesemia and hypocalciuria in laboratory test with poor treatments. His mother had more slight symptoms of weakness than him with mild hypokalemia and hypocalciuria. Mild hypomagnesemia was also observed in his sister with occasional weakness. All other pedigree members had normal laboratory test with no GS-related symptoms. A homozygous mutation of SLC12A3 gene (c.488C > T) was detected by genetic testing in three members, and six were carriers of this mutation. Genotype and phenotype vary significantly among GS patients. Male patients tend to experience more severe symptoms and poor treatment effect. Further large-scale population, animal, and molecular biology experiments are required to investigate the complexity of GS and to find a better treatment regimen for this disease.

  11. Do adenocarcinomas of the prostate with Gleason score (GS) ≤6 have the potential to metastasize to lymph nodes?

    Science.gov (United States)

    Ross, Hillary M; Kryvenko, Oleksandr N; Cowan, Janet E; Simko, Jeffry P; Wheeler, Thomas M; Epstein, Jonathan I

    2012-09-01

    Although rare, there are cases within reported series of men with Gleason score (GS) ≤6 on radical prostatectomies that show pelvic lymph node (LN) metastases. However, there are no studies on whether pelvic LN metastases occur in tumors with GS ≤6 using the International Society of Urological Pathology (ISUP) updated GS system. We performed a search of the radical prostatectomy databases at 4 large academic centers for cases of GS ≤6. Only prostatectomies submitted and embedded in entirety with pelvic LN dissections were included. A combined total of 14,123 cases were identified, of which 22 cases had a positive LN. Histopathologic review of 19 cases (3 cases unavailable for review) showed higher grade than originally reported by the pathologists in all cases. Of the 17 pre-ISUP reviewed cases, 2 were upgraded to 4+3=7 with both cribriform and poorly formed glands. One case was upgraded to 4+3=7 with tertiary pattern 5 displaying cribriform glands, poorly formed glands, and cords of single cells. Eleven cases were upgraded to 3+4=7 with glomeruloid structures and small to large cribriform glands (1 of these also had features of ductal adenocarcinoma). Two cases had tertiary pattern 4 with small cribriform glands. One case had a prominent colloid component that would currently be graded as 4+5=9 because of large cribriform glands and solid sheets of cells within the mucin. Of the 2 post-ISUP cases, 1 demonstrated tertiary pattern 4, and the other showed GS 3+4=7 with irregular cribriform glands. Undergrading is the primary reason for LN positivity with GS ≤6, which has decreased significantly since the adoption of the ISUP grading system in 2005. Of over 14,000 totally embedded radical prostatectomies from multiple institutions, there was not a single case of a GS ≤6 tumor with LN metastases. In contrast to prevailing assumptions, GS ≤6 tumors do not appear to metastasize to LNs. Rather, Gleason pattern 4 or 5, as better defined by the current ISUP

  12. Gerstmann'S syndrome in acute stroke patients.

    Science.gov (United States)

    Zukic, Sanela; Mrkonjic, Zamir; Sinanovic, Osman; Vidovic, Mirjana; Kojic, Biljana

    2012-12-01

    Gerstmann in 1924. observed in a few patients a concomitant impairment in discriminating their own fingers, writing by hand, distinguishing left from right and performing calculations. He claimed that this tetrad of symptoms constituted a syndromal entity, assigned it to a lesion of the dominant parietal lobe. Since than, Gerstmann`s syndrome (GS) was enigma for neuropsychologists. The aim of this study was to analyze frequency and clinical features of GS among acute stroke patients. We prospectively analyzed 194 acute stroke patients (average age 65±11.06 years, male 113 (58.2%), female 81 (41.8%) hospitalized at department of Neurology, University Clinical Center tuzla, during the six mounths in 2010. For clinical assessment of agraphia, alexia and acalculia we used Minessota test for differential diagnosis of aphasia's. Among these acute stroke patients, 59 (30.40%) had alexia, agraphia and acalculia or different combinations of these disorders. two patients (3.4%) had agraphia and acalculia associated with other part of tetrad of GS: fi nger agnosia and left-right disorientation. they both where men, right handed, and cranial computed tomography scan showed ischemic lesion in the left parietal and left temporoparietal lobe. Gerstmann`s syndrome is rare clinical entity, and has the high value in localization and the lesion is mainly localized to angular gyrus of the dominant hemisphere.

  13. The better growth phenotype of DvGS1-transgenic arabidopsis thaliana is attributed to the improved efficiency of nitrogen assimilation

    Directory of Open Access Journals (Sweden)

    Zhu Chenguang

    2015-01-01

    Full Text Available The overexpression of the algal glutamine synthetase (GS gene DvGS1 in Arabidopsis thaliana resulted in higher plant biomass and better growth phenotype. The purpose of this study was to recognize the biological mechanism for the growth improvement of DvGS1-transgenic Arabidopsis. A series of molecular and biochemical investigations related to nitrogen and carbon metabolism in the DvGS1-transgenic line was conducted. Analysis of nitrogen use efficiency (NUE-related gene transcription and enzymatic activity revealed that the transcriptional level and enzymatic activity of the genes encoding GS, glutamate synthase, glutamate dehydrogenase, alanine aminotransferase and aspartate aminotransferase, were significantly upregulated, especially from leaf tissues of the DvGS1-transgenic line under two nitrate conditions. The DvGS1-transgenic line showed increased total nitrogen content and decreased carbon: nitrogen ratio compared to wild-type plants. Significant reduced concentrations of free nitrate, ammonium, sucrose, glucose and starch, together with higher concentrations of total amino acids, individual amino acids (glutamate, aspartate, asparagine, methionine, soluble proteins and fructose in leaf tissues confirmed that the DvGS1-transgenic line demonstrated a higher efficiency of nitrogen assimilation, which subsequently affected carbon metabolism. These improved metabolisms of nitrogen and carbon conferred the DvGS1-transgenic Arabidopsis higher NUE, more biomass and better growth phenotype compared with the wild-type plants.

  14. Comparative Analysis of Management Standard Systems IAEA GS-R-3, ISO9000 and PMBOK%IAEA GS-R-3、ISO9000和PMBOK三大管理标准体系的对比分析

    Institute of Scientific and Technical Information of China (English)

    祁乐天

    2012-01-01

    对比分析了IAEA GS-R-3、ISO9000和PMBOK三大管理标准体系的目的、范围、过程性质、管理方法和过程模型,明确了系统方法应是管理改进的目标,揭示了核电全寿期过程的项目特征,建立了实用性核电过程模型,提出了GS-R-3标准体系的框架模型。%Comparative analysis of the purpose, extent, process property and management method of three management standard systems-IAEA GS-R-3, ISO9000 and PMBOK, indicates that system ap-proach is the goal of management improvement, reveals the project feature of nuclear power lifecycle process. Practical applicability process model for nuclear power plant is established. Frame model of GS-R-3 standard system is presented.

  15. Delayed diagnosis of Gorlin syndrome: Learning from mistakes!

    Directory of Open Access Journals (Sweden)

    Subramaniyan Ramanathan

    2015-01-01

    Full Text Available Gorlin syndrome (GS is a rare inherited multisystem disorder with predisposition to basal cell carcinomas and various other neoplasms. Characteristic features include falx calcification, multiple odontogenic keratocysts (OKCs, early onset medulloblastoma, craniofacial and skeletal malformations, cardiac and ovarian fibroma. We present a case of GS in a 9-year-old girl with recurrent dental infections which was overlooked for 8 years. Diagnosis was finally suggested by the incidental detection of multiple OKCs and ovarian fibromas on follow-up magnetic resonance imaging performed for surveillance of previous operated brain tumor.

  16. Delayed diagnosis of Gorlin syndrome: Learning from mistakes!

    Science.gov (United States)

    Ramanathan, Subramaniyan; Kumar, Devendra; Al Heidous, Mahmoud; Palaniappan, Yegu

    2015-01-01

    Gorlin syndrome (GS) is a rare inherited multisystem disorder with predisposition to basal cell carcinomas and various other neoplasms. Characteristic features include falx calcification, multiple odontogenic keratocysts (OKCs), early onset medulloblastoma, craniofacial and skeletal malformations, cardiac and ovarian fibroma. We present a case of GS in a 9-year-old girl with recurrent dental infections which was overlooked for 8 years. Diagnosis was finally suggested by the incidental detection of multiple OKCs and ovarian fibromas on follow-up magnetic resonance imaging performed for surveillance of previous operated brain tumor.

  17. Gorlin syndrome: Importance of clinical signs and danger of delayed diagnosis - A case report with eight years follow-up

    Directory of Open Access Journals (Sweden)

    Erica Dorigatti de-Avila

    2015-02-01

    Full Text Available Nevoid basal cell carcinoma (NBCCS or Gorlin-Goltz syndrome (GS is a multidisciplinary problem, the early diagnosis of which allows secondary prophylaxis that follows an appropriate regimen to delay progression of the syndrome. The aim of this study was to present a case of delayed diagnosis of GS in a young patient who received multidisciplinary treatment 5 years after onset. The patient presented for evaluation with painless swelling of the left maxilla. Histological examination confirmed the diagnosis of a keratocyst odontogenic tumor (KOT that was enucleated. On presentation, the patient's symptoms and clinical signs were not related to complications of GS, and the possibility of GS was initially rejected, as he did not have a family history of the syndrome. Four years after the first surgery to remove the lesion, the patient came to our clinic with a brown, pigmented lesion. Computed tomography revealed ectopic lamellar calcification of the falx cerebri, which was the conclusive factor for the diagnosis of GS. It is important that clinicians recognize the clinical signs of GS, which mainly manifests itself as multiple basal cell carcinomas in the skin. [Arch Clin Exp Surg 2015; 4(1.000: 49-53

  18. Confocal and dermoscopic features of basal cell carcinoma in Gorlin-Goltz syndrome: A case report.

    Science.gov (United States)

    Casari, Alice; Argenziano, Giuseppe; Moscarella, Elvira; Lallas, Aimilios; Longo, Caterina

    2016-01-14

    Gorlin-Goltz (GS) syndrome is an autosomal dominant disease linked to a mutation in the PTCH gene. Major criteria include the onset of multiple basal cell carcinoma (BCC), keratocystic odontogenic tumours in the jaws and bifid ribs. Dermoscopy and reflectance confocal microscopy represent imaging tools that are able to increase the diagnostic accuracy of skin cancer in a totally noninvasive manner, without performing punch biopsies. Here we present a case of a young woman in whom the combined approach of dermoscopy and RCM led to the identification of multiple small inconspicuous lesions as BCC and thus to the diagnosis of GS syndrome.

  19. Goldenhar syndrome: a case report with facial ocular auricular vertebral manifestations

    Directory of Open Access Journals (Sweden)

    Kotian Rashmishree R, Vinuta Hegde, Atul P. Sattur , Krishna N. Burde, Venkatesh G. Naikmasur

    2014-11-01

    Full Text Available Goldenhar’s Syndrome (GS is a rare condition described initially by Von Arlt. It is characterized by a combination of anomalies: epibulbar tumors, preauricular tags and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The malformations are said to arise from the first and second branchial arches. This work reports a case of GS in 11-years-old boy with the clinical signs of pseudo macrostomia, preauricular tags and epibulbar tumours.

  20. DNA sequence polymorphisms within the bovine guanine nucleotide-binding protein Gs subunit alpha (Gsα-encoding (GNAS genomic imprinting domain are associated with performance traits

    Directory of Open Access Journals (Sweden)

    Mullen Michael P

    2011-01-01

    Full Text Available Abstract Background Genes which are epigenetically regulated via genomic imprinting can be potential targets for artificial selection during animal breeding. Indeed, imprinted loci have been shown to underlie some important quantitative traits in domestic mammals, most notably muscle mass and fat deposition. In this candidate gene study, we have identified novel associations between six validated single nucleotide polymorphisms (SNPs spanning a 97.6 kb region within the bovine guanine nucleotide-binding protein Gs subunit alpha gene (GNAS domain on bovine chromosome 13 and genetic merit for a range of performance traits in 848 progeny-tested Holstein-Friesian sires. The mammalian GNAS domain consists of a number of reciprocally-imprinted, alternatively-spliced genes which can play a major role in growth, development and disease in mice and humans. Based on the current annotation of the bovine GNAS domain, four of the SNPs analysed (rs43101491, rs43101493, rs43101485 and rs43101486 were located upstream of the GNAS gene, while one SNP (rs41694646 was located in the second intron of the GNAS gene. The final SNP (rs41694656 was located in the first exon of transcripts encoding the putative bovine neuroendocrine-specific protein NESP55, resulting in an aspartic acid-to-asparagine amino acid substitution at amino acid position 192. Results SNP genotype-phenotype association analyses indicate that the single intronic GNAS SNP (rs41694646 is associated (P ≤ 0.05 with a range of performance traits including milk yield, milk protein yield, the content of fat and protein in milk, culled cow carcass weight and progeny carcass conformation, measures of animal body size, direct calving difficulty (i.e. difficulty in calving due to the size of the calf and gestation length. Association (P ≤ 0.01 with direct calving difficulty (i.e. due to calf size and maternal calving difficulty (i.e. due to the maternal pelvic width size was also observed at the rs

  1. DNA sequence polymorphisms within the bovine guanine nucleotide-binding protein Gs subunit alpha (Gsα)-encoding (GNAS) genomic imprinting domain are associated with performance traits

    Science.gov (United States)

    2011-01-01

    Background Genes which are epigenetically regulated via genomic imprinting can be potential targets for artificial selection during animal breeding. Indeed, imprinted loci have been shown to underlie some important quantitative traits in domestic mammals, most notably muscle mass and fat deposition. In this candidate gene study, we have identified novel associations between six validated single nucleotide polymorphisms (SNPs) spanning a 97.6 kb region within the bovine guanine nucleotide-binding protein Gs subunit alpha gene (GNAS) domain on bovine chromosome 13 and genetic merit for a range of performance traits in 848 progeny-tested Holstein-Friesian sires. The mammalian GNAS domain consists of a number of reciprocally-imprinted, alternatively-spliced genes which can play a major role in growth, development and disease in mice and humans. Based on the current annotation of the bovine GNAS domain, four of the SNPs analysed (rs43101491, rs43101493, rs43101485 and rs43101486) were located upstream of the GNAS gene, while one SNP (rs41694646) was located in the second intron of the GNAS gene. The final SNP (rs41694656) was located in the first exon of transcripts encoding the putative bovine neuroendocrine-specific protein NESP55, resulting in an aspartic acid-to-asparagine amino acid substitution at amino acid position 192. Results SNP genotype-phenotype association analyses indicate that the single intronic GNAS SNP (rs41694646) is associated (P ≤ 0.05) with a range of performance traits including milk yield, milk protein yield, the content of fat and protein in milk, culled cow carcass weight and progeny carcass conformation, measures of animal body size, direct calving difficulty (i.e. difficulty in calving due to the size of the calf) and gestation length. Association (P ≤ 0.01) with direct calving difficulty (i.e. due to calf size) and maternal calving difficulty (i.e. due to the maternal pelvic width size) was also observed at the rs43101491 SNP. Following

  2. [Clinical analysis of 7 patients with Gerstmann syndrome secondary to cerebral vascular disease].

    Science.gov (United States)

    Zhou, Xiang-qin; He, Rui; Liu, Zhi; Wang, Chang-qing

    2002-10-01

    To analyze clinical features of patients with Gerstmann syndrome (GS). We retrospectively analysed the clinical manifestations of 7 patients (6 men and 1 woman) with GS secondary to cerebral vascular diseases and reviewed the literatures. The age ranged from 51 to 70 years with a mean of 70 years. They all had sudden onset and the tetrad of GS-finger agnosia, left-right disorientation, agraphia and acalculia, 3 patients accompanied by incomplete aphasia, 3 by anomic aphasia, 2 by alexia and 1 by constructional apraxia. Cranial computed tomographic scan showed low-density focus of the left parietal lobe in 6 cases and high-density focus of the left parietal lobe in 1 case. GS has the high value in localization and the lesion is mainly localized to angular gyrus of the dominant hemisphere.

  3. Influence of Nitrogen Availability on Growth of Two Transgenic Birch Species Carrying the Pine GS1a Gene

    Directory of Open Access Journals (Sweden)

    Vadim G. Lebedev

    2017-01-01

    Full Text Available An alternative way to increase plant productivity through the use of nitrogen fertilizers is to improve the efficiency of nitrogen utilization via genetic engineering. The effects of overexpression of pine glutamine synthetase (GS gene and nitrogen availability on growth and leaf pigment levels of two Betula species were studied. Untransformed and transgenic plants of downy birch (B. pubescens and silver birch (B. pendula were grown under open-air conditions at three nitrogen regimes (0, 1, or 10 mM for one growing season. The transfer of the GS1a gene led to a significant increase in the height of only two transgenic lines of nine B. pubescens, but three of five B. pendula transgenic lines were higher than the controls. In general, nitrogen supply reduced the positive effect of the GS gene on the growth of transgenic birch plants. No differences in leaf pigment levels between control and transgenic plants were found. Nitrogen fertilization increased leaf chlorophyll content in untransformed plants but its effect on most of the transgenic lines was insignificant. The results suggest that birch plants carrying the GS gene use nitrogen more efficiently, especially when growing in nitrogen deficient soil. Transgenic lines were less responsive to nitrogen supply in comparison to wild-type plants.

  4. Influence of Nitrogen Availability on Growth of Two Transgenic Birch Species Carrying the Pine GS1a Gene

    Science.gov (United States)

    Lebedev, Vadim G.; Kovalenko, Nina P.; Shestibratov, Konstantin A.

    2017-01-01

    An alternative way to increase plant productivity through the use of nitrogen fertilizers is to improve the efficiency of nitrogen utilization via genetic engineering. The effects of overexpression of pine glutamine synthetase (GS) gene and nitrogen availability on growth and leaf pigment levels of two Betula species were studied. Untransformed and transgenic plants of downy birch (B. pubescens) and silver birch (B. pendula) were grown under open-air conditions at three nitrogen regimes (0, 1, or 10 mM) for one growing season. The transfer of the GS1a gene led to a significant increase in the height of only two transgenic lines of nine B. pubescens, but three of five B. pendula transgenic lines were higher than the controls. In general, nitrogen supply reduced the positive effect of the GS gene on the growth of transgenic birch plants. No differences in leaf pigment levels between control and transgenic plants were found. Nitrogen fertilization increased leaf chlorophyll content in untransformed plants but its effect on most of the transgenic lines was insignificant. The results suggest that birch plants carrying the GS gene use nitrogen more efficiently, especially when growing in nitrogen deficient soil. Transgenic lines were less responsive to nitrogen supply in comparison to wild-type plants. PMID:28067821

  5. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  6. On the model-based optimization of secreting mammalian cell (GS-NS0) cultures.

    Science.gov (United States)

    Kiparissides, A; Pistikopoulos, E N; Mantalaris, A

    2015-03-01

    The global bio-manufacturing industry requires improved process efficiency to satisfy the increasing demands for biochemicals, biofuels, and biologics. The use of model-based techniques can facilitate the reduction of unnecessary experimentation and reduce labor and operating costs by identifying the most informative experiments and providing strategies to optimize the bioprocess at hand. Herein, we investigate the potential of a research methodology that combines model development, parameter estimation, global sensitivity analysis, and selection of optimal feeding policies via dynamic optimization methods to improve the efficiency of an industrially relevant bioprocess. Data from a set of batch experiments was used to estimate values for the parameters of an unstructured model describing monoclonal antibody (mAb) production in GS-NS0 cell cultures. Global Sensitivity Analysis (GSA) highlighted parameters with a strong effect on the model output and data from a fed-batch experiment were used to refine their estimated values. Model-based optimization was used to identify a feeding regime that maximized final mAb titer. An independent fed-batch experiment was conducted to validate both the results of the optimization and the predictive capabilities of the developed model. The successful integration of wet-lab experimentation and mathematical model development, analysis, and optimization represents a unique, novel, and interdisciplinary approach that addresses the complicated research and industrial problem of model-based optimization of cell based processes.

  7. Measurement of isotope abundance variations in nature by gravimetric spiking isotope dilution analysis (GS-IDA).

    Science.gov (United States)

    Chew, Gina; Walczyk, Thomas

    2013-04-02

    Subtle variations in the isotopic composition of elements carry unique information about physical and chemical processes in nature and are now exploited widely in diverse areas of research. Reliable measurement of natural isotope abundance variations is among the biggest challenges in inorganic mass spectrometry as they are highly sensitive to methodological bias. For decades, double spiking of the sample with a mix of two stable isotopes has been considered the reference technique for measuring such variations both by multicollector-inductively coupled plasma mass spectrometry (MC-ICPMS) and multicollector-thermal ionization mass spectrometry (MC-TIMS). However, this technique can only be applied to elements having at least four stable isotopes. Here we present a novel approach that requires measurement of three isotope signals only and which is more robust than the conventional double spiking technique. This became possible by gravimetric mixing of the sample with an isotopic spike in different proportions and by applying principles of isotope dilution for data analysis (GS-IDA). The potential and principle use of the technique is demonstrated for Mg in human urine using MC-TIMS for isotopic analysis. Mg is an element inaccessible to double spiking methods as it consists of three stable isotopes only and shows great potential for metabolically induced isotope effects waiting to be explored.

  8. Genetic analysis of a unique bacteriocin, Smb, produced by Streptococcus mutans GS5.

    Science.gov (United States)

    Yonezawa, Hideo; Kuramitsu, Howard K

    2005-02-01

    A dipeptide lantibiotic, named Smb, in Streptococcus mutans GS5 was characterized by molecular genetic approaches. The Smb biosynthesis gene locus is encoded by a 9.5-kb region of chromosomal DNA and consists of seven genes in the order smbM1, -T, -F, -M2, -G, -A, -B. This operon is not present in some other strains of S. mutans, including strain UA159. The genes encoding Smb were identified as smbA and smbB. Inactivation of smbM1, smbA, or smbB attenuated the inhibition of the growth of the indicator strain RP66, confirming an essential role for these genes in Smb expression. Mature Smb likely consists of the 30-amino-acid SmbA together with the 32-amino-acid SmbB. SmbA exhibited similarity with the mature lantibiotic lacticinA2 from Lactococcus lactis, while SmbB was similar to the mersacidin-like peptides from Bacillus halodurans and L. lactis. We also demonstrated that Smb expression is induced by the competence-stimulating peptide (CSP) and that a com box-like sequence is located in the smb promoter region. These results suggest that Smb belongs to the class I bacteriocin family, and its expression is dependent on CSP-induced quorum sensing.

  9. Behind the scenes of GS: a professional fire and rescue service like no other

    CERN Multimedia

    Anaïs Schaeffer

    2014-01-01

    Meet the professionals at the top of their game working hard for the well-being of the CERN community. Meet the CERN Fire Brigade.   Highly-qualified professional firefighters CERN’s Fire and Rescue Service (FRS, GS-FB Group) currently consists of 58 professionals. These are highly sought-after positions: for just a handful of vacancies, hundreds of applications are submitted from all over Europe. And bear in mind that only professional firefighters with at least five years’ experience at a centre with high levels of operational activity may apply… and they must also have a good command of at least one of the Organization's two official languages. Once the pre-selection process is over, around twenty candidates progress to the next stage, where they are really put through their paces with language tests, theory exams and exercises on real fires. “For the practical part, all candidates are evaluated on their responses to a real fire," ...

  10. New insights into the quasi-periodic X-ray burster GS 0836-429

    CERN Document Server

    Aranzana, E; Kuulkers, E

    2015-01-01

    GS 0836-429 is a neutron star X-ray transient that displays Type-I X-ray bursts. In 2003 and 2004 it experienced two outbursts in X-rays. We present here an analysis of the system bursting properties during these outbursts. We studied the evolution of the 2003-2004 outbursts in soft X-rays using RXTE (2.5-12 keV; ASM), and in hard X-rays with INTEGRAL (17-80 keV, IBIS/ISGRI). Using data from the JEM-X monitor onboard INTEGRAL we detected 61 Type-I X-ray bursts, and confirm that the source displayed a quasi-periodic burst recurrence time of about 2.3 hours. We improve the characterization of the fuel composition, as well as the description of the typical burst durations and fluences. We estimate the average value of $\\alpha$ to be $49\\pm\\,3$. This value together with the observed burst profiles indicate a regime of a mixed He/H runaway triggered by unstable helium ignition. In addition, we report the detection of four series of double bursts, with burst recurrence times of $\\leq\\,20$ minutes. The measured recu...

  11. GS-1101: a delta-specific PI3K inhibitor in chronic lymphocytic leukemia.

    Science.gov (United States)

    Macias-Perez, Ines M; Flinn, Ian W

    2013-03-01

    Chronic lymphocytic leukemia (CLL) remains an incurable B-cell malignancy with many unanswered questions. While the cell of origin and etiology are still unknown, significant scientific progress has revealed numerous molecular targets for novel therapeutic interventions. Phosphatidylinositol 3-kinases (PI3K) regulate key cellular functions, including growth, survival and migration, by integrating and transmitting signals from diverse surface molecules including the B-cell receptor (BCR). In lymphocytes, the PI3Kδ isoform plays a critical role in B-cell homeostasis and function. In CLL, the PI3K pathway is constitutively active and dependent on PI3Kδ. GS-1101 is a highly selective PI3Kδ inhibitor that in CLL patients causes a rapid and sustained reduction in lymphadenopathy, accompanied by transient lymphocytosis. This article will review new insights into the pathophysiology of CLL, the preclinical rationale of a PI3Kδ inhibitor in CLL, and the clinical evidence supporting this first-in-class therapeutic target for CLL patients.

  12. Behind the scenes of GS: Did you say “grey”?

    CERN Multimedia

    Antonella Del Rosso

    2014-01-01

    Walking around the CERN site, what we tend to notice are the buildings, roads, and car parks. At first glance, any “green” seems to be in the minority. The reality is quite different, as developed land takes up only 40 of the almost 650 hectares made available to the Organization by its Host States.   1,300 trees in CERN's enclosed areas, 250 hectares of cultivated fields and meadows, 140 hectares of woodland, and three wetlands: CERN clearly deserves its “green” certification from the Swiss conservation foundation Nature et économie that it has held since 2009. "We maintain every site, but each site is different and has its own conservation criteria," says Mathieu Fontaine, head of Green Spaces in the Civil Engineering and Buildings section of the GS Department. At CERN, an external company takes care of the day-to-day upkeep, but more complex operations are often necessary. The various projects to fell diseased or ...

  13. High-throughput microsatellite isolation through 454 GS-FLX Titanium pyrosequencing of enriched DNA libraries.

    Science.gov (United States)

    Malausa, Thibaut; Gilles, André; Meglécz, Emese; Blanquart, Hélène; Duthoy, Stéphanie; Costedoat, Caroline; Dubut, Vincent; Pech, Nicolas; Castagnone-Sereno, Philippe; Délye, Christophe; Feau, Nicolas; Frey, Pascal; Gauthier, Philippe; Guillemaud, Thomas; Hazard, Laurent; Le Corre, Valérie; Lung-Escarmant, Brigitte; Malé, Pierre-Jean G; Ferreira, Stéphanie; Martin, Jean-François

    2011-07-01

    Microsatellites (or SSRs: simple sequence repeats) are among the most frequently used DNA markers in many areas of research. The use of microsatellite markers is limited by the difficulties involved in their de novo isolation from species for which no genomic resources are available. We describe here a high-throughput method for isolating microsatellite markers based on coupling multiplex microsatellite enrichment and next-generation sequencing on 454 GS-FLX Titanium platforms. The procedure was calibrated on a model species (Apis mellifera) and validated on 13 other species from various taxonomic groups (animals, plants and fungi), including taxa for which severe difficulties were previously encountered using traditional methods. We obtained from 11,497 to 34,483 sequences depending on the species and the number of detected microsatellite loci ranged from 199 to 5791. We thus demonstrated that this procedure can be readily and successfully applied to a large variety of taxonomic groups, at much lower cost than would have been possible with traditional protocols. This method is expected to speed up the acquisition of high-quality genetic markers for nonmodel organisms.

  14. DIAGNOSING THE BURST INFLUENCE ON ACCRETION IN THE CLOCKED BURSTER GS 1826-238

    Energy Technology Data Exchange (ETDEWEB)

    Ji, Long; Zhang, Shu; Chen, YuPeng; Zhang, Shuang-Nan; Chang, Zhi [Laboratory for Particle Astrophysics, Institute of High Energy Physics, Beijing 100049 (China); Torres, Diego F. [Institució Catalana de Recerca i Estudis Avançats (ICREA), E-08010 Barcelona (Spain); Kretschmar, Peter; Kuulkers, Erik [European Space Astronomy Centre (ESA/ESAC), Science Operations Department, Villanueva de la Cañada (Madrid) (Spain); Li, Jian [Institute of Space Sciences (CSIC–IEEC), Campus UAB, Carrer de Can Magrans, s/n E-08193, Barcelona (Spain)

    2015-06-10

    Type I X-ray bursts on the surface of a neutron star are a unique probe into accretion in X-ray binary systems. However, we know little about the feedback of the burst emission on accretion. Hard X-ray shortages and enhancements of the persistent emission at soft X-rays have been observed. To put these findings in context with the aim of understanding the possible mechanism underneath, we investigated 68 bursts seen by the Rossi X-ray Timing Explorer from the clocked burster GS 1826-238. We diagnosed jointly the burst influence of both soft and hard X-rays, and we found that the observations can be described by the CompTT model with variable normalization, electron temperature, and optical depth. Putting these results in a scenario of coronal Compton cooling via the burst emission would lead to a shortage of cooling power, which may suggest that additional considerations, like the influence of the burst on corona formation, should be accounted for as well.

  15. The Spin of the Black Hole GS 1124-683: Observation of a Retrograde Accretion Disk?

    CERN Document Server

    Morningstar, Warren R; Reis, Rubens C; Ebisawa, Ken

    2014-01-01

    We re-examine archival Ginga data for the black hole binary system GS 1124-683, obtained when the system was undergoing its 1991 outburst. Our analysis estimates the dimensionless spin parameter a=cJ/GM^2 by fitting the X-ray continuum spectra obtained while the system was in the "Thermal Dominant" state. For likely values of mass and distance, we find the spin to be a=-0.25 (-0.64, +0.05) (90% confidence), implying that the disk is retrograde (i.e. rotating antiparallel to the spin axis of the black hole). We note that this measurement would be better constrained if the distance to the binary and the mass of the black hole were more accurately determined. This result is unaffected by the model used to fit the hard component of the spectrum. In order to be able to recover a prograde spin, the mass of the black hole would need to be at least 15.25 Msun, or the distance would need to be less than 4.5 kpc, both of which disagree with previous determinations of the black hole mass and distance. If we allow f_col ...

  16. Modification of the GS LT Paired-end Library Protocol for Constructing Longer Insert Size Libraries

    Energy Technology Data Exchange (ETDEWEB)

    Peng, Ze; Peng, Ze; Hamilton, Matthew; Ting, Sara; Tu, Hank; Goltsman, Eugene; Lapidus, Alla; Lucas, Susan; Cheng, Jan-Fang

    2008-05-22

    Paired-end library sequencing has been proven useful in scaffold construction during de novo assembly of genomic sequences. The ability of generating mate pairs with 8 Kb or greater insert sizes is especially important for genomes containing long repeats. While the current 454 GS LT Paired-end library preparation protocol can successfully construct libraries with 3 Kb insert size, it fails to generate longer insert sizes because the protocol is optimized to purify shorter fragments. We have made several changes in the protocol in order to increase the fragment length. These changes include the use of Promega column to increase the yield of large size DNA fragments, two gel purification steps to remove contaminated short fragments, and a large reaction volume in the circularization step to decrease the formation of chimeras. We have also made additional changes in the protocol to increase the overall quality of the libraries. The quality of the libraries are measured by a set of metrics, which include levels of redundant reads, linker positive, linker negative, half linker reads, and driver DNA contamination, and read length distribution, were used to measure the primary quality of these libraries. We have also assessed the quality of the resulted mate pairs including levels of chimera, distribution of insert sizes, and genome coverage after the assemblies are completed. Our data indicated that all these changes have improved the quality of the longer insert size libraries.

  17. Behind the scenes of GS: there’s only one way to go

    CERN Multimedia

    Anaïs Schaeffer

    2014-01-01

    At CERN, all of the Laboratory’s imports and exports are routed in the same way: through the Logistics Service. This GS-IS Group service is responsible for receiving, inspecting and distributing all goods sent to the Organization.   Whether products for the CERN Stores, components for the experiments, tools, machinery and materials for the workshops or equipment for users and members of the personnel, nothing escapes the attention of CERN’s Logistics Service, which every year processes nearly 70,000 incoming deliveries, 7,500 shipments and 160,000 distributed items. “The vast majority of our imports come from CERN Member States,” says imports and customs procedures manager Laurence Planque, “but we are receiving more and more goods for collaborators working at CERN from non-Member States such as China, India and Pakistan. All these imports are entitled to diplomatic exemption, so every day we have to manage the customs clearance procedures wit...

  18. Análisis estructural e invarianza de medición del MBI-GS en trabajadores peruanos (Structural Analysis and Measurement Invariance of MBI-GS in Peruvian Workers

    Directory of Open Access Journals (Sweden)

    Manuel Fernández-Arata

    2015-06-01

    Full Text Available Resumen La medición del burnout ha evolucionado con la creación de varios instrumentos y modelos. El Maslach Burnout Inventory - General Survey (MBI-GS es uno de estos instrumentos para medir tres constructos definicionales del burnout: (1 agotamiento emocional, (2 eficacia profesional y (3 indiferencia. Fue creado para un amplio rango de ocupaciones, pero pocas veces se ha verificado su estructura latente e invarianza de medición en Latinoamérica. El presente estudio analiza esta estructura latente y la invarianza de medición del MBI-GS en una muestra de 940 trabajadores peruanos de varias ocupaciones. Se aplicó la metodología de ecuaciones estructurales mediante el análisis factorial confirmatorio, así como la invarianza de medición entre varones y mujeres, imponiendo restricciones sucesivamente más estrictas. Los resultados verificaron satisfactoriamente la estructura de tres dimensiones latentes del MBI-GS, y la invarianza de sus parámetros entre hombres y mujeres. Se discute las implicaciones de los resultados. Abstract The measurement of burnout has evolved into the creation of various tools and models. The Maslach Burnout Inventory - General Survey (MBI-GS is one of these instruments used to measure three definitional constructs of burnout: (1 emotional exhaustion, (2 professional efficiency, and (3 indifference. It was created for a wide range of occupations, but its latent structure and invariance of measurement in Latin America has rarely been verified. The present study analyzes the latent structure and the invariance of measurement of MBI-GS in a sample of 940 Peruvian workers in various occupations. The methodology of structural equations was applied through the confirmatory factor analysis, as well as the invariance of measurement between men and women, imposing restrictions successively more strict. The results satisfactorily verified the structure of three-dimensional latent MBI-GS, and the invariance of its

  19. The 3' untranslated region of the two cytosolic glutamine synthetase (GS(1)) genes in alfalfa (Medicago sativa) regulates transcript stability in response to glutamine.

    Science.gov (United States)

    Simon, Bindu; Sengupta-Gopalan, Champa

    2010-10-01

    Glutamine synthetase (GS) catalyzes the ATP-dependent condensation of ammonia with glutamate to produce glutamine. The GS enzyme is located either in the chloroplast (GS(2)) or in the cytoplasm (GS(1)). GS(1) is encoded by a small gene family and the members exhibit differential expression pattern mostly attributed to transcriptional regulation. Based on our recent finding that a soybean GS(1) gene, Gmglnβ ( 1 ) is subject to its 3'UTR-mediated post-transcriptional regulation as a transgene in alfalfa (Medicago sativa) we have raised the question of whether the 3'UTR-mediated transcript destabilization is a more universal phenomenon. Gene constructs consisting of the CaMV35S promoter driving the reporter gene, GUS, followed by the 3'UTRs of the two alfalfa GS(1) genes, MsGSa and MsGSb, were introduced into alfalfa and tobacco. The analysis of these transformants suggests that while both the 3'UTRs promote transcript turnover, the MsGSb 3'UTR is more effective than the MsGSa 3'UTR. However, both the 3'UTRs along with Gmglnβ ( 1 ) 3'UTR respond to nitrate as a trigger in transcript turnover. More detailed analysis points to glutamine rather than nitrate as the mediator of transcript turnover. Our data suggests that the 3'UTR-mediated regulation of GS(1) genes at the level of transcript turnover is probably universal and is used for fine-tuning the expression in keeping with the availability of the substrates.

  20. GsSKP21, a Glycine soja S-phase kinase-associated protein, mediates the regulation of plant alkaline tolerance and ABA sensitivity.

    Science.gov (United States)

    Liu, Ailin; Yu, Yang; Duan, Xiangbo; Sun, Xiaoli; Duanmu, Huizi; Zhu, Yanming

    2015-01-01

    Plant SKP1-like family proteins, components of the SCF complex E3 ligases, are involved in the regulation of plant development and stress responses. Little is known about the precise function of SKP genes in plant responses to environmental stresses. GsSKP21 was initially identified as a potential stress-responsive gene based on the transcriptome sequencing of Glycine soja. In this study, we found that GsSKP21 protein contains highly conserved SKP domains in its N terminus and an extra unidentified domain in its C terminus. The transcript abundance of GsSKP21, detected by quantitative real-time PCR, was induced under the treatment of alkali and salt stresses. Overexpression of GsSKP21 in Arabidopsis dramatically increased plant tolerance to alkali stress. Furthermore, we found that overexpression of GsSKP21 resulted in decreased ABA sensitivity during both the seed germination and early seedling growth stages. GsSKP21 mediated ABA signaling by altering the expression levels of the ABA signaling-related and ABA-induced genes. We also investigated the tissue expression specificity and subcellular localization of GsSKP21. These results suggest that GsSKP21 is important for plant tolerance to alkali stress and plays a critical regulatory role in the ABA-mediated stress response.

  1. GsLRPK, a novel cold-activated leucine-rich repeat receptor-like protein kinase from Glycine soja, is a positive regulator to cold stress tolerance.

    Science.gov (United States)

    Yang, Liang; Wu, Kangcheng; Gao, Peng; Liu, Xiaojuan; Li, Guangpu; Wu, Zujian

    2014-02-01

    Plant LRR-RLKs serve as protein interaction platforms, and as regulatory modules of protein activation. Here, we report the isolation of a novel plant-specific LRR-RLK from Glycine soja (termed GsLRPK) by differential screening. GsLRPK expression was cold-inducible and shows Ser/Thr protein kinase activity. Subcellular localization studies using GFP fusion protein indicated that GsLRPK is localized in the plasma membrane. Real-time PCR analysis indicated that temperature, salt, drought, and ABA treatment can alter GsLRPK gene transcription in G. soja. However, just protein induced by cold stress not by salinity and ABA treatment in tobacco was found to possess kinase activity. Furthermore, we found that overexpression of GsLRPK in yeast and Arabidopsis can enhance resistance to cold stress and increase the expression of a number of cold responsive gene markers.

  2. Cloning of Glutamine Synthetase BnGS2 Allele Genes from Ramie (Boehmeria nivea L.) and Study on Gene-Transforming Tobacco%苎麻谷氨酰胺合成酶BnGS2等位基因的克隆及其转基因烟草特性

    Institute of Scientific and Technical Information of China (English)

    郑建树; 段叶辉; 熊和平; 喻春明; 陈平; 王延周; 谭龙涛; 陈继康; 朱涛涛; 卢凌霄; 朱娟娟

    2014-01-01

    【目的】克隆谷氨酰胺合成酶BnGS2等位基因,分别构建其超量表达载体,并探讨其在转基因烟草中对氮代谢的影响。【方法】依据苎麻转录组unigenes和RT-PCR技术克隆苎麻BnGS2等位基因,利用内切酶TaqⅠ对目的等位基因在中苎1号自交 F1和亲本中进行酶切鉴定,并利用生物信息学对基因序列和结构特征进行分析;通过同源重组技术分别构建 BnGS2等位基因的超量表达载体,并在农杆菌(Agrobacterium tumefaciens)LBA4404的介导下,通过叶盘法将超量表达载体转入烟草中,通过Kan筛选、转化植株基因组DNA PCR验证获得转基因T0植株;利用qRT-PCR分析BnGS2等位基因在转基因T1植株中的相对表达水平,并测定植株叶片中的GS活性、株高、鲜重、可溶蛋白及总氮含量。【结果】首次从苎麻中克隆了一对GS2等位基因,命名为BnGS2-1和BnGS2-2,等位基因序列全长1340 bp,含有一个1293 bp的ORF区,编码430个氨基酸残基多肽;等位基因核苷酸序列在11个位点上存在差异,导致编码的多肽在195、382位点上的氨基酸残基存在替换现象(BnGS2-1为脯氨酸和天冬酰胺,BnGS2-2为苏氨酸和丝氨酸);NCBI BLASTP分析表明苎麻BnGS2与Pisum sativum、Vigna radiata、Glycine max、Phaseolus vulgaris、Medicago truncatula具有很近的亲缘关系;构建了能分别超量表达BnGS2-1和BnGS2-2的载体,并获得能分别超量表达BnGS2-1和BnGS2-2转基因烟草植株;与野生型烟草植株相比,超量表达BnGS2等位基因(BnGS2-1和BnGS2-2)都能显著性提高转基因植株叶片GS活性、鲜重和可溶性蛋白的含量,株高和总氮含量也有增加,但没有达到显著性水平。另外,超量表达不同BnGS2等位基因(BnGS2-1和BnGS2-2)的转基因烟草植株,在株高、鲜重、叶片可溶性蛋白及总氮含量上并没有显著性差异。【结论】在烟草中分

  3. A Glycine soja 14-3-3 protein GsGF14o participates in stomatal and root hair development and drought tolerance in Arabidopsis thaliana.

    Science.gov (United States)

    Sun, Xiaoli; Luo, Xiao; Sun, Mingzhe; Chen, Chao; Ding, Xiaodong; Wang, Xuedong; Yang, Shanshan; Yu, Qingyue; Jia, Bowei; Ji, Wei; Cai, Hua; Zhu, Yanming

    2014-01-01

    It is well established that 14-3-3 proteins are key regulators of multiple stress signal transduction cascades. However, the biological functions of soybean 14-3-3 proteins, especially in plant drought response, are not yet known. In this study, we characterized a Glycine soja 14-3-3 gene, GsGF14o, which is involved in plant development and drought response. GsGF14o expression was greatly induced by drought stress, as evidenced by the quantitative real-time PCR and β-glucuronidase (GUS) activity analysis. GsGF14o overexpression in Arabidopsis thaliana resulted in decreased drought tolerance during seed germination and seedling growth. Furthermore, silencing of AtGF14µ, the most homologous 14-3-3 gene of GsGF14o, led to enhanced drought tolerance at both the seed germination and seedling stage. Unexpectedly, GsGF14o transgenic lines showed reduced water loss and transpiration rates compared with wild-type plants, which was demonstrated to be the consequence of the decreased stomatal size. At the same time, the smaller stomata due to GsGF14o overexpression led to a relatively slow net photosynthesis rate, which led to a growth penalty under drought stress. We further demonstrated that GsGF14o overexpression caused deficits in root hair formation and development, and thereby reduced the water intake capacity of the transgenic root system. In addition, GsGF14o overexpression down-regulated the transcript levels of drought-responsive marker genes. Finally, we also investigated the tissue-specific accumulation of GsGF14o by using a GUS activity assay. Collectively, the results presented here confirm that GsGF14o plays a dual role in drought stress responses through its involvement in the regulation of stomatal size and root hair development.

  4. Human milk IgGs contain various combinations of different antigen-binding sites resulting in multiple variants of their bispecificity.

    Directory of Open Access Journals (Sweden)

    Sergey E Sedykh

    Full Text Available In the classic paradigm, immunoglobulins represent products of clonal B cell populations, each producing antibodies (Abs recognizing a single antigen. There is a common belief that IgGs in mammalian biological fluids are monovalent molecules having stable structures and two identical antigen-binding sites. However, human milk IgGs to different antigens undergo extensive half-molecule exchange. In the IgGs pool, only 33 ± 5% and 13 ± 5% of Abs contained light chains exclusively of kappa- or lambda-type, respectively, while 54 ± 10% of the IgGs contained both kappa- and lambda- light chains. All Ab preparations contained different amounts of IgGs of all four subclasses. Interestingly, lambda-IgGs contained an increased amount of IgG2 (87% and only 3-6% of each of IgG1, IgG3, and IgG4, while kappa-IgGs consisted of comparable (17-32% amounts of all IgG subtypes. Chimeric kappa-lambda-IgGs consisted of ~74% IgG1, ~16% IgG2, ~5% IgG3 and ~5% IgG4. As the result of the exchange, all IgG fractions eluted from several specific affinity sorbents under the conditions destroying strong immunocomplexes demonstrated high catalytic activities in hydrolysis of ATP, DNA, oligosaccharides, phosphorylation of proteins, lipids, and oligosaccharides. In vitro, an addition of reduced glutathione and milk plasma to two IgG fractions with different affinity for DNA-cellulose led to a transition of 25-60% of Ab of one fraction to the other fraction. Our data are indicative of the possibility of half-molecule exchange between milk IgGs of various subclasses, raised against different antigens (including abzymes, which explains the polyspecificity and cross-reactivity of these IgGs.

  5. Structure determination and biochemical characterization of a putative HNH endonuclease from Geobacter metallireducens GS-15.

    Directory of Open Access Journals (Sweden)

    Shuang-yong Xu

    Full Text Available The crystal structure of a putative HNH endonuclease, Gmet_0936 protein from Geobacter metallireducens GS-15, has been determined at 2.6 Å resolution using single-wavelength anomalous dispersion method. The structure contains a two-stranded anti-parallel β-sheet that are surrounded by two helices on each face, and reveals a Zn ion bound in each monomer, coordinated by residues Cys38, Cys41, Cys73, and Cys76, which likely plays an important structural role in stabilizing the overall conformation. Structural homologs of Gmet_0936 include Hpy99I endonuclease, phage T4 endonuclease VII, and other HNH endonucleases, with these enzymes sharing 15-20% amino acid sequence identity. An overlay of Gmet_0936 and Hpy99I structures shows that most of the secondary structure elements, catalytic residues as well as the zinc binding site (zinc ribbon are conserved. However, Gmet_0936 lacks the N-terminal domain of Hpy99I, which mediates DNA binding as well as dimerization. Purified Gmet_0936 forms dimers in solution and a dimer of the protein is observed in the crystal, but with a different mode of dimerization as compared to Hpy99I. Gmet_0936 and its N77H variant show a weak DNA binding activity in a DNA mobility shift assay and a weak Mn²⁺-dependent nicking activity on supercoiled plasmids in low pH buffers. The preferred substrate appears to be acid and heat-treated DNA with AP sites, suggesting Gmet_0936 may be a DNA repair enzyme.

  6. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... exogenous Cushing syndrome . Prednisone, dexamethasone, and ...

  7. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

  8. Draft Genome Sequence of Human-Pathogenic Lactococcus garvieae LG-ilsanpaik-gs201105 That Caused Acute Acalculous Cholecystitis.

    Science.gov (United States)

    Kim, Ji Hyung; Kang, Do-Hyung; Park, Se Chang

    2015-06-04

    Lactococcus garvieae, which is generally known as a marine and freshwater fish pathogen, is now considered to be an emerging zoonotic pathogen in both human and veterinary medicine. In recent years, we have reported the infection of L. garvieae LG-ilsanpaik-gs201105 in the gallbladder of an old fisherman. In this study, we present the draft genome sequence of L. garvieae LG-ilsanpaik-gs201105, with a total genome size of 1,960,261 bp in 53 contigs and a 38.1% average G+C content. Interestingly, the capsule gene cluster, which was known as one of the crucial virulence factors in L. garvieae, was not detected in our isolate. This is the first genome sequence of human-pathogenic L. garvieae, which caused acute acalculous cholecystitis.

  9. Procedure for Calculation of Potency and Efficacy for Ligands Acting on G(s)- and G (i)-Coupled Receptors

    DEFF Research Database (Denmark)

    Meier, Eddi; Schousboe, Arne; Belhage, Bo

    2012-01-01

    Structure activity relationship (SAR) analyses of pharmacological data of compounds constitute an important part of the discovery process in the design of new drug candidates with improved pharmacological properties. In particular G-Protein Coupled Receptors (GPCRs) associated with the cAMP second...... messenger systems G(s) and G(i) have constituted one of the most widely used basis for pharmacological in vitro assays for assessing functional receptor effects. Such assays are based on Radio Immuno Assay (RIA) analysis to measure the cellular cAMP concentration as readout of receptor activation....... It appears, however, to be a common practice to omit the use of cAMP standard curves to transform the measured signals (cpm or cps) into cAMP concentrations on which estimations of potencies (EC(50) values) and efficacies (E(MAX) values) in G(s) and G(i) coupled receptor stimulation are based. Such practice...

  10. Goodpasture's syndrome: a clinical update.

    Science.gov (United States)

    Greco, Antonio; Rizzo, Maria Ida; De Virgilio, Armando; Gallo, Andrea; Fusconi, Massimo; Pagliuca, Giulio; Martellucci, Salvatore; Turchetta, Rosaria; Longo, Lucia; De Vincentiis, Marco

    2015-03-01

    Goodpasture's syndrome (GS) is a rare and organ-specific autoimmune disease that is mediated by anti-glomerular basement membrane (anti-GBM) antibodies and has pathology characterized by crescentic glomerulonephritis with linear immunofluorescent staining for IgG on the GBM. It typically presents as acute renal failure caused by a rapidly progressive glomerulonephritis, accompanied by pulmonary hemorrhage that may be life-threatening. It was first described as a distinctive syndrome by Pasture in 1919. Autoimmune Inner Ear Disease (AIED) may be associated. The etiology of GS is unknown. Researchers hypothesized a genetic predisposition HLA-associated. Complex immunological mechanisms are in the pathogenesis. The disease is caused by autoantibodies against the NC1 domain of the alpha 3 chain of type IV collagen. The limited presence of this molecule in the body explains the interest confined to specific target organs, such as the lung and kidney. It occurs when the immune system attacks the walls of the lungs and the tiny filtering units in the kidneys. Without prompt diagnosis and treatment, the disease can lead to bleeding in the lungs, kidney failure, and even death. Copyright © 2014 Elsevier B.V. All rights reserved.

  11. Quality differences between NILs of wheat variety Long 97-586 possessing HMW-GS 7+8 and 7

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    The high molecular weight glutenin subunits (HMW-GS) 7+8 were introduced into the Long 97–586 (1,7,2+12) wheat variety (Triticum aestivum) by 5 consecutive backcrosses with biochemical marker–assisted selection.Nearly isogenic lines (NILs) of HMW-GS 7 and 7+8 were obtained,and the NILs were planted in the experimental field at the Crop Breeding Institute of Heilongjiang Academy of Agricultural Science in 2004–2006.The field experiments were designed using the two-column contrast arrangement method with six replicates in 2004–2005 and four replicates in 2006.The result of three years experiments showed that the differences between NILs of Long 97–586 with subunit 7 and those with subunits 7+8 in the quality parameters of flour protein content and dry gluten content were negligible (P>0.1).However,the differences in some of the quality parameters were remarkably significant (P<0.01),including wet gluten content,ratio of wet gluten/dry gluten,gluten index,Zeleny sedimentation,ratio of sedimentation/dry gluten,and the farinogram parameters of water absorption,development time,stability,breakdown time and degree of softening.The difference between NILs with subunits 7+8 and subunit 7 was significant (P<0.05) on the alveogram W value and had a critical value (P=0.05) on the alveogram P value in 2006.The results show that HMW-GS 7+8 is far superior to HMW-GS 7 in terms of baking quality.The possibilities of using subunits 7+8 and subunit 7 in breeding strong and weak gluten wheat varieties are discussed in this paper.

  12. SUZUKI GS1000的延续——改装纪念版SUZUKI GSX400S Impulse

    Institute of Scientific and Technical Information of China (English)

    刘海笑; 安李楠

    2004-01-01

    SUZUKI GSX400S Impulse是一款非常大众化的400NK,在车友中的保有率很高,到处都有Impulse的身影,这次改装的Impulse是一台2000年出厂的GS1000纪念版刺激,有很高的收藏价值。

  13. 研扬发布一款全新的COM Express模块——COM-45GS

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    研扬近期发布了一款全新的基于Intel GS45芯片组的TypeⅡCOM Express模块一COM-45GS。COM-45GS是为了满足市场对低功耗高性能产品的需求而设计的。COM-45GS可缩短开发时间。

  14. Transgene inheritance and quality improvement by expressing novel HMW glutenin subunit (HMW-GS) genes in winter wheat

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    The expression vector pBPC30, which carries the high molecular weight glutenin subunit (HMW-GS) 1Dx5 and 1Dy10 genes, was transferred into hexaploid winter wheat cv. Jinghua No. 1, Jing411 and Jingdong No. 6 explants of immature embryos and immature inflorescence by particle bombardment. A large number of resistant transgenic plants were obtained under the selection of herbicide bialaphos or phosphinothricin (PPT). Confirmed transgenic plants of T0 generation showed successful integration of HMW-GS genes and bar gene into the wheat genome. T1 generation of transgenic plants can resist 20-150 mg/L PPT. Protein analysis of T2 seed by SDS-PAGE showed that HMW-GS 1Dx5 and 1Dy10 genes were well expressed in offspring seed of transgenic lines by co-expression with or substitution of endogenous 1Dx2 or 1Dy10. In one transgenic line, TG3-74, a new protein band between endogenous protein subunits 7 and 8 (marked as 8*) of glutenin appeared, but endogenous subunit 8 (encoded by 1By8 gene) was absent. Analysis of gluten rheological quality on seed proteins of 102 T3 plants showed that the sedimentation value of 5 transgenic lines (44.2-49.0 mL) was remarkably improved, 59.6%-64.3% higher than that of wild type Jinghua No. 1 and Jingdong No. 6, similar to bread wheat Cheyenne (48.0 mL). Analysis of dough rheological properties of transgenic lines showed that the dough stable time of 5 transgenic lines range from 16 to 30 min, whereas the dough stable time of wild type was only between 3-7 min. Our research suggests that introducing novel HMW-GS genes into wheat is an efficient way to improve its bread-making quality.

  15. GS/DBM/PLA porous composite biomaterial for the treatment of infective femoral condyle defect in rats

    OpenAIRE

    Liu, Xiaoming; Yang, Lin; Li, Jing; Zhang, Yuming; Xu, Weijun; Ren, Yan; LIU, BIWANG; Yang, Biao; LI, BAOXING

    2016-01-01

    A bone defect resulting from open bone trauma may easily become infected; however, the administration of efficacious systemic antibiotics cannot be performed at safe levels. Previous studies have investigated anti-infective biomaterials that incorporate into bone and facilitate the direct application of high-concentration local antibiotics. In the present study, the effect of a novel porous composite with gentamicin sulfate (GS) in treating infected femoral condyle defects was investigated us...

  16. [An autopsy case of Goodpasture syndrome preceded with membranous glomerulonephritis].

    Science.gov (United States)

    Takeuchi, K; Takeda, T; Sakai, I; Taneichi, K; Shibaki, H

    1997-12-01

    Goodpasture syndrome (GS) is an autoimmune disorder characterized by the association of pulmonary hemorrhage and rapidly progressive glomerulonephritis. The pathogenesis of GS is still unknown, but was shown to be the result that antibodies directed against glomerular basement membrane (GBM) antigens could injure both glomerular and pulmonary alveolar basement membrane. And membranous glomerulonephritis (MGN) is a glomerular disease characterized by epimembranous immune deposits and basement membrane thickening. MGN typically presents with the onset of nephrotic syndrome, but it often presents with only asymptomatic proteinuria. We reported an autopsy case of GS preceded with MGN. A 70-year-old man was admitted to our hospital with acute renal failure in May 2, 1996. Percutaneous renal biopsy demonstrated a crescentic glomerulonephritis associated with MGN and linear immunofluorescent staining of the basement membrane with antibodies to IgG. Two weeks later on admission he began to develop slight hemoptysis and chest X-ray showed pulmonary hemorrhage, Furthermore, his serum anti-GBM antibodies titer was very high. He was diagnosed as GS associated with MGN and treated with plasma exchange, glucocorticoid, and cyclophosphamide. Though his symptom was improved for intensive support, he suddenly died on June 22. Autopsied lungs showed focal pulmonary hemorrhage, but were not considered to be life-threatening. The cause of the death remained unclear.

  17. Evaluation of 454 GS Junior Sequencing Platform Using in Bacterial Genome de novo Sequencing%454 GS Junior测序平台用于细菌基因组de novo测序的评价

    Institute of Scientific and Technical Information of China (English)

    陈晨; 张媛媛; 王海印

    2013-01-01

      目的评价454 GS Junior 测序平台在细菌基因组测序中的应用价值。方法利用454 GS Junior 测序平台测定1株霍乱弧菌的基因组序列,组装注释后,与参考序列霍乱弧菌 O1埃尔托生物型菌株 N16961基因组序列进行比对。结果共获得37Mbp 数据,平均读长为322bp。数据组装后,得到170个序列重叠群,总长为3.96Mbp。与参考序列相比,测定序列对于参考序列的覆盖度达到99.49%,参考序列96.76%的基因被完整测出同源基因。结论454 GS Junior 测序平台可以用于细菌基因组的快速测定。%  Objective To investigate the application value of 454 GS Junior Sequencing Platform in bacterial genome sequencing. Methods Genome sequencing of Vibrio Cholera was performed using 454 pyrosequencing, and the genome was compared with the reference sequence of N16961 after assembling and annotation. Results Totally, 37 Mbp raw data were obtained and the average reads length is 322 bps. 170 contigs were assembled and the whole genome is 3.96 Mbp. Comparing with strain N16961, the sequenced genome covered 99.49% of the reference genome and 96.76% genes of N16961 got orthologous in the sequenced genome. Conclusion The 454 GS Junior Sequencing Platform is suitable for the fast sequencing of bacterial genome.

  18. Acidosis Mediates the Switching of Gs-PKA and Gi-PKCε Dependence in Prolonged Hyperalgesia Induced by Inflammation.

    Science.gov (United States)

    Huang, Wei-Yu; Dai, Shih-Ping; Chang, Yan-Ching; Sun, Wei-Hsin

    2015-01-01

    Chronic inflammatory pain, when not effectively treated, is a costly health problem and has a harmful effect on all aspects of health-related quality of life. Previous studies suggested that in male Sprague Dawley rats, prostaglandin E2 (PGE2)-induced short-term hyperalgesia depends on protein kinase A (PKA) activity, whereas long-lasting hyperalgesia induced by PGE2 with carrageenan pre-injection, requires protein kinase Cε (PKCε). However, the mechanism underlying the kinase switch with short- to long-term hyperalgesia remains unclear. In this study, we used the inflammatory agents carrageenan or complete Freund's adjuvant (CFA) to induce long-term hyperalgesia, and examined PKA and PKCε dependence and switching time. Hyperalgesia induced by both agents depended on PKA/PKCε and Gs/Gi-proteins, and the switching time from PKA to PKCε and from Gs to Gi was about 3 to 4 h after inflammation induction. Among the single inflammatory mediators tested, PGE2 and 5-HT induced transient hyperalgesia, which depended on PKA and PKCε, respectively. Only acidic solution-induced hyperalgesia required Gs-PKA and Gi-PKCε, and the switch time for kinase dependency matched inflammatory hyperalgesia, in approximately 2 to 4 h. Thus, acidosis in inflamed tissues may be a decisive factor to regulate switching of PKA and PKCε dependence via proton-sensing G-protein-coupled receptors.

  19. Amperometric Immunosensor for Carbofuran Detection Based on MWCNTs/GS-PEI-Au and AuNPs-Antibody Conjugate

    Directory of Open Access Journals (Sweden)

    Xiangyou Wang

    2013-04-01

    Full Text Available In this paper, an amperometric immunosensor for the detection of carbofuran was developed. Firstly, multiwall carbon nanotubes (MWCNTs and graphene sheets-ethyleneimine polymer-Au (GS-PEI-Au nanocomposites were modified onto the surface of a glass carbon electrode (GCE via self-assembly. The nanocomposites can increase the surface area of the GCE to capture a large amount of antibody, as well as produce a synergistic effect in the electrochemical performance. Then the modified electrode was coated with gold nanoparticles-antibody conjugate (AuNPs-Ab and blocked with BSA. The monoclonal antibody against carbofuran was covalently immobilized on the AuNPs with glutathione as a spacer arm. The morphologies of the GS-PEI-Au nanocomposites and the fabrication process of the immunosensor were characterized by X-ray diffraction (XRD, ultraviolet and visible absorption spectroscopy (UV-vis and scanning electron microscopy (SEM, respectively. Under optimal conditions, the immunosensor showed a wide linear range, from 0.5 to 500 ng/mL, with a detection limit of 0.03 ng/mL (S/N = 3. The as-constructed immunosensor exhibited notable performance features such as high specificity, good reproducibility, acceptable stability and regeneration performance. The results are mainly due to the excellent properties of MWCNTs, GS-PEI-Au nanocomposites and the covalent immobilization of Ab with free hapten binding sites for further immunoreaction. It provides a new avenue for amperometric immunosensor fabrication.

  20. Amperometric immunosensor for carbofuran detection based on MWCNTs/GS-PEI-Au and AuNPs-antibody conjugate.

    Science.gov (United States)

    Zhu, Ying; Cao, Yaoyao; Sun, Xia; Wang, Xiangyou

    2013-04-19

    In this paper, an amperometric immunosensor for the detection of carbofuran was developed. Firstly, multiwall carbon nanotubes (MWCNTs) and graphene sheets-ethyleneimine polymer-Au (GS-PEI-Au) nanocomposites were modified onto the surface of a glass carbon electrode (GCE) via self-assembly. The nanocomposites can increase the surface area of the GCE to capture a large amount of antibody, as well as produce a synergistic effect in the electrochemical performance. Then the modified electrode was coated with gold nanoparticles-antibody conjugate (AuNPs-Ab) and blocked with BSA. The monoclonal antibody against carbofuran was covalently immobilized on the AuNPs with glutathione as a spacer arm. The morphologies of the GS-PEI-Au nanocomposites and the fabrication process of the immunosensor were characterized by X-ray diffraction (XRD), ultraviolet and visible absorption spectroscopy (UV-vis) and scanning electron microscopy (SEM), respectively. Under optimal conditions, the immunosensor showed a wide linear range, from 0.5 to 500 ng/mL, with a detection limit of 0.03 ng/mL (S/N = 3). The as-constructed immunosensor exhibited notable performance features such as high specificity, good reproducibility, acceptable stability and regeneration performance. The results are mainly due to the excellent properties of MWCNTs, GS-PEI-Au nanocomposites and the covalent immobilization of Ab with free hapten binding sites for further immunoreaction. It provides a new avenue for amperometric immunosensor fabrication.

  1. Acidosis Mediates the Switching of Gs-PKA and Gi-PKCε Dependence in Prolonged Hyperalgesia Induced by Inflammation.

    Directory of Open Access Journals (Sweden)

    Wei-Yu Huang

    Full Text Available Chronic inflammatory pain, when not effectively treated, is a costly health problem and has a harmful effect on all aspects of health-related quality of life. Previous studies suggested that in male Sprague Dawley rats, prostaglandin E2 (PGE2-induced short-term hyperalgesia depends on protein kinase A (PKA activity, whereas long-lasting hyperalgesia induced by PGE2 with carrageenan pre-injection, requires protein kinase Cε (PKCε. However, the mechanism underlying the kinase switch with short- to long-term hyperalgesia remains unclear. In this study, we used the inflammatory agents carrageenan or complete Freund's adjuvant (CFA to induce long-term hyperalgesia, and examined PKA and PKCε dependence and switching time. Hyperalgesia induced by both agents depended on PKA/PKCε and Gs/Gi-proteins, and the switching time from PKA to PKCε and from Gs to Gi was about 3 to 4 h after inflammation induction. Among the single inflammatory mediators tested, PGE2 and 5-HT induced transient hyperalgesia, which depended on PKA and PKCε, respectively. Only acidic solution-induced hyperalgesia required Gs-PKA and Gi-PKCε, and the switch time for kinase dependency matched inflammatory hyperalgesia, in approximately 2 to 4 h. Thus, acidosis in inflamed tissues may be a decisive factor to regulate switching of PKA and PKCε dependence via proton-sensing G-protein-coupled receptors.

  2. PI3Kδ inhibitor, GS-1101 (CAL-101), attenuates pathway signaling, induces apoptosis, and overcomes signals from the microenvironment in cellular models of Hodgkin lymphoma.

    Science.gov (United States)

    Meadows, Sarah A; Vega, Francisco; Kashishian, Adam; Johnson, Dave; Diehl, Volker; Miller, Langdon L; Younes, Anas; Lannutti, Brian J

    2012-02-23

    GS-1101 (CAL-101) is an oral PI3Kδ-specific inhibitor that has shown preclinical and clinical activity in non-Hodgkin lymphoma and chronic lymphocytic leukemia. To investigate the potential role of PI3Kδ in Hodgkin lymphoma (HL), we screened 5 HL cell lines and primary samples from patients with HL for PI3Kδ isoform expression and constitutive PI3K pathway activation. Inhibition of PI3Kδ by GS-1101 resulted in the inhibition of Akt phosphorylation. Cocultures with stroma cells induced Akt activation in HL cells, and this effect was blocked by GS-1101. Conversely, production of the stroma-stimulating chemokine, CCL5, by HL cells was reduced by GS-1101. GS-1101 also induced dose-dependent apoptosis of HL cells at 48 hours. Reductions in cell viability and apoptosis were enhanced when combining GS-1101 with the mTOR inhibitor everolimus. Our findings suggest that excessive PI3Kδ activity is characteristic in HL and support clinical evaluation of GS-1101, alone and in combination, as targeted therapy for HL.

  3. Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies

    Science.gov (United States)

    2016-08-15

    SCID; Omenn's Syndrome; Reticular Dysgenesis; Wiskott-Aldrich Syndrome; Bare Lymphocyte Syndrome; Common Variable Immunodeficiency; Chronic Granulomatous Disease; CD40 Ligand Deficiency; Hyper IgM Syndrome; X-linked Lymphoproliferative Disease; Hemophagocytic Lymphohistiocytosis; Griscelli Syndrome; Chediak-Higashi Syndrome; Langerhan's Cell Histiocytosis

  4. Bilateral ovarian fibroma associated with Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Shahnaz Aram

    2009-02-01

    Full Text Available

    • Gorlin syndrome (GS, also known as nevoid basal cell carcinoma syndrome (NBCCS, is a rare inherited multisystem disorder. This paper presents a 22-years-old Iranian woman with this syndrome whose past history was multiple keratocysts of maxillary bone. She was referred to gynecology clinic with the chief complaint of irregular menses and vaginal spotting. On examination, frontal bossing and hypertelorism were detected. Physical examination of genitalia disclosed bilateral adnexal masses. Pelvic ultrasound showed two solid, echogenous and calcified masses measuring 100*50*10 & 60*50*45 mm in the left and right ovaries, respectively. The patient underwent right oophorectomy and ovarian mass resection with preservation of intact ovarian tissue on the left side. On frozen and permanent histological sections, bilateral and calcified ovarian fibromas were diagnosed. Surprisingly, during the last follow-up one year after the surgery, we found that our patient was expecting a baby. It can be concluded that in the presence of bilateral and calcified ovarian fibromas, the possibility of GS should be considered. Accurate diagnosis is only possible with close attention to the familial and past medical history and physical examination. In these patients, careful follow up for detecting malignancies and other complications is highly recommended.
    • KEY WORDS: Gorlin syndrome, ovarian fibroma, multiple keratocysts.

  5. Gardner Syndrome

    Science.gov (United States)

    ... Home > Types of Cancer > Gardner Syndrome Request Permissions Gardner Syndrome Approved by the Cancer.Net Editorial Board , 06/2014 What is Gardner syndrome? Gardner syndrome is a subtype of familial ...

  6. The new 4-O-methylhonokiol analog GS12021 inhibits inflammation and macrophage chemotaxis: role of AMP-activated protein kinase α activation.

    Directory of Open Access Journals (Sweden)

    Sora Kim

    Full Text Available Preventing pathologic tissue inflammation is key to treating obesity-induced insulin resistance and type 2 diabetes. Previously, we synthesized a series of methylhonokiol analogs and reported that compounds with a carbamate structure had inhibitory function against cyclooxygenase-2 in a cell-free enzyme assay. However, whether these compounds could inhibit the expression of inflammatory genes in macrophages has not been investigated. Here, we found that a new 4-O-methylhonokiol analog, 3',5-diallyl-4'-methoxy-[1,1'-biphenyl]-2-yl morpholine-4-carboxylate (GS12021 inhibited LPS- or TNFα-stimulated inflammation in macrophages and adipocytes, respectively. LPS-induced phosphorylation of nuclear factor-kappa B (NF-κB/p65 was significantly decreased, whereas NF-κB luciferase activities were slightly inhibited, by GS12021 treatment in RAW 264.7 cells. Either mitogen-activated protein kinase phosphorylation or AP-1 luciferase activity was not altered by GS12021. GS12021 increased the phosphorylation of AMP-activated protein kinase (AMPK α and the expression of sirtuin (SIRT 1. Inhibition of mRNA expression of inflammatory genes by GS12021 was abolished in AMPKα1-knockdown cells, but not in SIRT1 knockout cells, demonstrating that GS12021 exerts anti-inflammatory effects through AMPKα activation. The transwell migration assay results showed that GS12021 treatment of macrophages prevented the cell migration promoted by incubation with conditioned medium obtained from adipocytes. GS12021 suppression of p65 phosphorylation and macrophage chemotaxis were preserved in AMPKα1-knockdown cells, indicating AMPK is not required for these functions of GS12021. Identification of this novel methylhonokiol analog could enable studies of the structure-activity relationship of this class of compounds and further evaluation of its in vivo potential for the treatment of insulin-resistant states and other chronic inflammatory diseases.

  7. FUNCTIONOMICS OF NCC MUTATIONS IN GITELMAN SYNDROME USING A NOVEL MAMMALIAN CELL-BASED ACTIVITY ASSAY.

    NARCIS (Netherlands)

    Valdez-Flores, M.A.; Vargas-Poussou, R.; Verkaart, S.; Tutakhel, O.A.Z.; Valdez-Ortiz, A.; Blanchard, A.; Treard, C.; Hoenderop, J.G.J.; Bindels, R.J.M.; Jelen, S.

    2016-01-01

    Gitelman syndrome (GS) is an autosomal recessive salt-wasting tubular disorder resulting from loss-of-function mutations in the thiazide-sensitive NaCl cotransporter (NCC). Functional analysis of these mutations has been limited to the use of Xenopus laevis oocytes. The aim of the present study was,

  8. New insights into the quasi-periodic X-ray burster GS 0836-429

    Science.gov (United States)

    Aranzana, E.; Sánchez-Fernández, C.; Kuulkers, E.

    2016-02-01

    GS 0836-429 is a neutron star X-ray transient that displays Type-I X-ray bursts. In 2003 and 2004 it experienced two outbursts in X-rays. We present here an analysis of the system's bursting properties during these outbursts. We studied the evolution of the 2003-2004 outbursts in soft X-rays using RXTE (2.5-12 keV; ASM) and in hard X-rays with INTEGRAL (17-80 keV, IBIS/ISGRI). Using data from the JEM-X monitor onboard INTEGRAL, we studied the bursting properties of the source. We detected 61 Type-I X-ray bursts during the 2004 outburst and confirm that the source displayed a quasi-periodic burst recurrence time of about 2.3 h. We improve the characterisation of the fuel composition, as well as the description of the typical burst durations and fluences. We estimate the average value of α to be 49 ± 3, which describes the ratio of the gravitational energy released between bursts to the nuclear energy released in an X-ray burst. Both this value and the observed burst profiles indicate a regime of a mixed He/H runaway triggered by unstable helium ignition. In addition, we report the detection of four series of double bursts, with burst recurrence times of ≤20 min. The secondary bursts are always shorter and less energetic than the primary and typical bursts from the source. The measured recurrence time in double bursts is too short to allow the accretion of enough fresh material, which is needed to trigger a Type-I X-ray burst. This suggests the presence of leftover, unburned material from the preceding burst, which gets ignited on a time scale of minutes. The energies and time scales of the secondary bursts suggest a lower fraction of hydrogen compared to that estimated for the primary bursts. The persistent emission was roughly constant during the period when the Type I X-ray bursts were detected. We derive an average accretion rate during our observations of ṁ ~ 8% ṁEdd. The spectrum of the persistent emission during these observations can be fit with a non

  9. Our trial to develop a risk assessment tool for CO2 geological storage (GERAS-CO2GS)

    Science.gov (United States)

    Tanaka, A.; Sakamoto, Y.; Komai, T.

    2012-12-01

    We will introduce our researches about to develop a risk assessment tool named 'GERAS-CO2GS' (Geo-environmental Risk Assessment System, CO2 Geological Storage Risk Assessment System) for 'Carbon Dioxide Geological Storage (Geological CCS)'. It aims to facilitate understanding of size of impact of risks related with upper migration of injected CO2. For gaining public recognition about feasibility of Geological CCS, quantitative estimation of risks is essential, to let public knows the level of the risk: whether it is negligible or not. Generally, in preliminary hazard analysis procedure, potential hazards could be identified within Geological CCS's various facilities such as: reservoir, cap rock, upper layers, CO2 injection well, CO2 injection plant and CO2 transport facilities. Among them, hazard of leakage of injected C02 is crucial, because it is the clue to estimate risks around a specific injection plan in terms of safety, environmental protection effect and economy. Our risk assessment tool named GERAS-CO2GS evaluates volume and rate of retention and leakage of injected CO2 in relation with fractures and/or faults, and then it estimates impact of seepages on the surface of the earth. GERAS-CO2GS has four major processing segments: (a) calculation of CO2 retention and leakage volume and rate, (b) data processing of CO2 dispersion on the surface and ambient air, (c) risk data definition and (d) evaluation of risk. Concerning to the injection site, we defined a model, which is consisted from an injection well and a geological strata model: which involves a reservoir, a cap rock, an upper layer, faults, seabed, sea, the surface of the earth and the surface of the sea. For retention rate of each element of CO2 injection site model, we use results of our experimental and numerical studies on CO2 migration within reservoirs and faults with specific lithological conditions. For given CO2 injection rate, GERAS-CO2GS calculates CO2 retention and leakage of each segment

  10. Epidemiology and Heritability of Major Depressive Disorder, Stratified by Age of Onset, Sex, and Illness Course in Generation Scotland: Scottish Family Health Study (GS:SFHS)

    National Research Council Canada - National Science Library

    Fernandez-Pujals, Ana Maria; Adams, Mark James; Thomson, Pippa; McKechanie, Andrew G; Blackwood, Douglas H R; Smith, Blair H; Dominiczak, Anna F; Morris, Andrew D; Matthews, Keith; Campbell, Archie; Linksted, Pamela; Haley, Chris S; Deary, Ian J; Porteous, David J; MacIntyre, Donald J; McIntosh, Andrew M

    2015-01-01

    .... Generation Scotland: Scottish Family Health Study (GS:SFHS) is a large (n = 20,198), family-based population study designed to identify the genetic determinants of common diseases, including Major Depressive Disorder...

  11. Toll-Like Receptor 7 Agonist GS-9620 Induces HIV Expression and HIV-Specific Immunity in Cells from HIV-Infected Individuals on Suppressive Antiretroviral Therapy.

    Science.gov (United States)

    Tsai, Angela; Irrinki, Alivelu; Kaur, Jasmine; Cihlar, Tomas; Kukolj, George; Sloan, Derek D; Murry, Jeffrey P

    2017-04-15

    Antiretroviral therapy can suppress HIV replication to undetectable levels but does not eliminate latent HIV, thus necessitating lifelong therapy. Recent efforts to target this persistent reservoir have focused on inducing the expression of latent HIV so that infected cells may be recognized and eliminated by the immune system. Toll-like receptor (TLR) activation stimulates antiviral immunity and has been shown to induce HIV from latently infected cells. Activation of TLR7 leads to the production of several stimulatory cytokines, including type I interferons (IFNs). In this study, we show that the selective TLR7 agonist GS-9620 induced HIV in peripheral blood mononuclear cells (PBMCs) from HIV-infected individuals on suppressive antiretroviral therapy. GS-9620 increased extracellular HIV RNA 1.5- to 2-fold through a mechanism that required type I IFN signaling. GS-9620 also activated HIV-specific T cells and enhanced antibody-mediated clearance of HIV-infected cells. Activation by GS-9620 in combination with HIV peptide stimulation increased CD8 T cell degranulation, production of intracellular cytokines, and cytolytic activity. T cell activation was again dependent on type I IFNs produced by plasmacytoid dendritic cells. GS-9620 induced phagocytic cell maturation and improved effector-mediated killing of HIV-infected CD4 T cells by the HIV envelope-specific broadly neutralizing antibody PGT121. Collectively, these data show that GS-9620 can activate HIV production and improve the effector functions that target latently infected cells. GS-9620 may effectively complement orthogonal therapies designed to stimulate antiviral immunity, such as therapeutic vaccines or broadly neutralizing antibodies. Clinical studies are under way to determine if GS-9620 can target HIV reservoirs.IMPORTANCE Though antiretroviral therapies effectively suppress viral replication, they do not eliminate integrated proviral DNA. This stable intermediate of viral infection is persistently

  12. Toll-Like Receptor 7 Agonist GS-9620 Induces HIV Expression and HIV-Specific Immunity in Cells from HIV-Infected Individuals on Suppressive Antiretroviral Therapy

    Science.gov (United States)

    Tsai, Angela; Irrinki, Alivelu; Kaur, Jasmine; Cihlar, Tomas; Kukolj, George

    2017-01-01

    ABSTRACT Antiretroviral therapy can suppress HIV replication to undetectable levels but does not eliminate latent HIV, thus necessitating lifelong therapy. Recent efforts to target this persistent reservoir have focused on inducing the expression of latent HIV so that infected cells may be recognized and eliminated by the immune system. Toll-like receptor (TLR) activation stimulates antiviral immunity and has been shown to induce HIV from latently infected cells. Activation of TLR7 leads to the production of several stimulatory cytokines, including type I interferons (IFNs). In this study, we show that the selective TLR7 agonist GS-9620 induced HIV in peripheral blood mononuclear cells (PBMCs) from HIV-infected individuals on suppressive antiretroviral therapy. GS-9620 increased extracellular HIV RNA 1.5- to 2-fold through a mechanism that required type I IFN signaling. GS-9620 also activated HIV-specific T cells and enhanced antibody-mediated clearance of HIV-infected cells. Activation by GS-9620 in combination with HIV peptide stimulation increased CD8 T cell degranulation, production of intracellular cytokines, and cytolytic activity. T cell activation was again dependent on type I IFNs produced by plasmacytoid dendritic cells. GS-9620 induced phagocytic cell maturation and improved effector-mediated killing of HIV-infected CD4 T cells by the HIV envelope-specific broadly neutralizing antibody PGT121. Collectively, these data show that GS-9620 can activate HIV production and improve the effector functions that target latently infected cells. GS-9620 may effectively complement orthogonal therapies designed to stimulate antiviral immunity, such as therapeutic vaccines or broadly neutralizing antibodies. Clinical studies are under way to determine if GS-9620 can target HIV reservoirs. IMPORTANCE Though antiretroviral therapies effectively suppress viral replication, they do not eliminate integrated proviral DNA. This stable intermediate of viral infection is

  13. All-oral therapy with nucleotide inhibitors sofosbuvir and GS-0938 for 14 days in treatment-naive genotype 1 hepatitis C (nuclear).

    Science.gov (United States)

    Lawitz, E J; Rodriguez-Torres, M; Denning, J; Mathias, A; Mo, H; Gao, B; Cornpropst, M T; Berrey, M M; Symonds, W T

    2013-10-01

    Sofosbuvir and GS-0938 are distinct nucleotide analogues with activity against hepatitis C virus (HCV) in vitro. We evaluated the antiviral activity and safety of sofosbuvir and GS-0938 alone and in combination in HCV genotype 1 patients. In this double-blind study, 40 treatment-naïve patients were randomly assigned to 4 treatment cohorts: (i) GS-0938 for 14 days, (ii) GS-0938 for 7 days followed by GS-0938 plus sofosbuvir for 7 days, (iii) sofosbuvir for 7 days followed by GS-0938 plus sofosbuvir for 7 days and (iv) GS-0938 plus sofosbuvir for 14 days. In each arm, 8 patients received active drug and 2 placebo. After 7 days of dosing, patients in all 4 dose groups experienced substantial reductions in HCV RNA, with median declines (Q1, Q3) of -4.50 (-4.66, -4.24) in Cohort 1, -4.55 (-4.97, -4.13) in Cohort 2, -4.65 (-4.78, -4.17) in Cohort 3 and -4.43 (-4.81, -4.13) in Cohort 4; patients receiving placebo had essentially no change in HCV RNA (+0.07 log(10) IU/mL). Seven days after the end of treatment, the proportions of patients with HCV RNA Sofosbuvir and GS-0938-alone and in combination--were well tolerated and led to substantial reductions in viral load. Sofosbuvir is undergoing further investigation as a possible backbone of an all-oral regimen for chronic HCV.

  14. A Glycine soja ABA-responsive receptor-like cytoplasmic kinase, GsRLCK, positively controls plant tolerance to salt and drought stresses.

    Science.gov (United States)

    Sun, XiaoLi; Sun, Mingzhe; Luo, Xiao; Ding, XiaoDong; Ji, Wei; Cai, Hua; Bai, Xi; Liu, XiaoFei; Zhu, YanMing

    2013-06-01

    Receptor such as protein kinases are proposed to work as sensors to initiate signaling cascades in higher plants. However, little is known about the precise functions of receptor such as protein kinases in abiotic stress response in plants, especially in wild soybean. Here, we focused on characterization of the biological functions of a receptor-like cytoplasmic serine/threonine protein kinase gene, GsRLCK, which was previously identified as a putative salt-alkali stress-related gene from the transcriptome profiles of Glycine soja. Bioinformatic analysis showed that GsRLCK protein contained a conserved kinase catalytic domain and two transmembrane domains at the N-terminus, but no typical extracellular domain. Consistently, GsRLCK-eGFP fusion protein was observed on the plasma membrane, but eGFP alone was distributing throughout the cytoplasm in onion epidermal cells. Quantitative real-time PCR analysis revealed the induced expression of GsRLCK by ABA, salt, alkali, and drought stresses. However, the expression levels of GsRLCK seemed to be similar in different tissues, except soybean pod. Phenotypic assays demonstrated that GsRLCK overexpression decreased ABA sensitivity and altered expression levels of ABA-responsive genes. Furthermore, we also found that GsRLCK conferred increased tolerance to salt and drought stresses and increased expression levels of a handful of stress-responsive genes, when overexpressing in Arabidopsis. In a word, we gave exact evidence that GsRLCK was a novel receptor-like cytoplasmic protein kinase and played a crucial role in plant responses to ABA, salt, and drought stresses.

  15. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and GNAS imprinting defects

    Science.gov (United States)

    Lecumberri, B; Fernández-Rebollo, E; Sentchordi, L; Saavedra, P; Bernal-Chico, A; Pallardo, L F; Jiménez Bustos, J M; Castaño, L; de Santiago, M; Hiort, O; Pérez de Nanclares, G; Bastepe, M

    2011-01-01

    Background Pseudohypoparathyroidism (PHP) defines a rare group of disorders whose common feature is resistance to the parathyroid hormone. Patients with PHP-Ia display additional hormone resistance, Albright hereditary osteodystrophy (AHO) and reduced Gsα activity in easily accessible cells. This form of PHP is associated with heterozygous inactivating mutations in Gsα-coding exons of GNAS, an imprinted gene locus on chromosome 20q13.3. Patients with PHP-Ib typically have isolated parathyroid hormone resistance, lack AHO features and demonstrate normal erythrocyte Gsα activity. Instead of coding Gsα mutations, patients with PHP-Ib display imprinting defects of GNAS, caused, at least in some cases, by genetic mutations within or nearby this gene. Patients Two unrelated PHP families, each of which includes at least one patient with a Gsα coding mutation and another with GNAS loss of imprinting, are reported here. Results One of the patients with GNAS imprinting defects has paternal uniparental isodisomy of chromosome 20q, explaining the observed imprinting abnormalities. The identified Gsα coding mutations include a tetranucleotide deletion in exon 7, which is frequently found in PHP-Ia, and a novel single nucleotide change at the acceptor splice junction of intron 11. Conclusions These molecular data reveal an interesting mixture, in the same family, of both genetic and epigenetic mutations of the same gene. PMID:19858129

  16. B. subtilis GS67 protects C. elegans from Gram-positive pathogens via fengycin-mediated microbial antagonism.

    Science.gov (United States)

    Iatsenko, Igor; Yim, Joshua J; Schroeder, Frank C; Sommer, Ralf J

    2014-11-17

    Studies on Caenorhabditis elegans have provided detailed insight into host-pathogen interactions. Usually, the E. coli strain OP50 is used as food source for laboratory studies, but recent work has shown that a variety of bacteria have dramatic effects on C. elegans physiology, including immune responses. However, the mechanisms by which different bacteria impact worm resistance to pathogens are poorly understood. Although pathogen-specific immune priming is often discussed as a mechanism underlying such observations, interspecies microbial antagonism might represent an alternative mode of action. Here, we use several natural Bacillus strains to study their effects on nematode survival upon pathogen challenge. We show that B. subtilis GS67 persists in the C. elegans intestine and increases worm resistance to Gram-positive pathogens, suggesting that direct inhibition of pathogens might be the primary protective mechanism. Indeed, chemical and genetic analyses identified the lipopeptide fengycin as the major inhibitory molecule produced by B. subtilis GS67. Specifically, a fengycin-defective mutant of B. subtilis GS67 lost inhibitory activity against pathogens and was unable to protect C. elegans from infections. Furthermore, we found that purified fengycin cures infected worms in a dose-dependent manner, indicating that it acts as an antibiotic. Our results reveal a molecular mechanism for commensal-mediated C. elegans protection and highlight the importance of interspecies microbial antagonism for the outcome of animal-pathogen interactions. Furthermore, our work strengthens C. elegans as an in vivo model to reveal protective mechanisms of commensal bacteria, including those relevant to mammalian hosts.

  17. NuSTAR detection of 4s Hard X-ray Lags from the Accreting Pulsar GS 0834-430

    DEFF Research Database (Denmark)

    Bachetti, Matteo; Miyasaka, Hiromasa; Harrison, Fiona;

    2014-01-01

    The NuSTAR hard X-ray telescope observed the transient Be/X-ray binary GS 0834􀀀430 during its 2012 outburst. The source is detected between 3 – 79 keV with high statistical significance, and we were able to perform very accurate spectral and timing analysis. The phase-averaged spectrum i...... significantly smaller in phase and restricted to low-energies (Emechanisms that might produce such lags. We find the most likely explanation for this eect to be a complex beam geometry....

  18. A minimal set of tissue-specific hypomethylated CpGs constitute epigenetic signatures of developmental programming.

    Directory of Open Access Journals (Sweden)

    Alejandro Colaneri

    Full Text Available BACKGROUND: Cell specific states of the chromatin are programmed during mammalian development. Dynamic DNA methylation across the developing embryo guides a program of repression, switching off genes in most cell types. Thus, the majority of the tissue specific differentially methylated sites (TS-DMS must be un-methylated CpGs. METHODOLOGY AND PRINCIPAL FINDINGS: Comparison of expanded Methyl Sensitive Cut Counting data (eMSCC among four tissues (liver, testes, brain and kidney from three C57BL/6J mice, identified 138,052 differentially methylated sites of which 23,270 contain CpGs un-methylated in only one tissue (TS-DMS. Most of these CpGs were located in intergenic regions, outside of promoters, CpG islands or their shores, and up to 20% of them overlapped reported active enhancers. Indeed, tissue-specific enhancers were up to 30 fold enriched in TS-DMS. Testis showed the highest number of TS-DMS, but paradoxically their associated genes do not appear to be specific to the germ cell functions, but rather are involved in organism development. In the other tissues the differentially methylated genes are associated with tissue-specific physiological or anatomical functions. The identified sets of TS-DMS quantify epigenetic distances between tissues, generated during development. We applied this concept to measure the extent of reprogramming in the liver of mice exposed to in utero or early postnatal nutritional stress. Different protocols of food restriction reprogrammed the liver methylome in different but reproducible ways. CONCLUSION AND SIGNIFICANCE: Thus, each identified set of differentially methylated sites constituted an epigenetic signature that traced the developmental programing or the early nutritional reprogramming of each exposed mouse. We propose that our approach has the potential to outline a number of disease-associated epigenetic states. The composition of differentially methylated CpGs may vary with each situation, behaving

  19. Observations of X-ray transient source GS2023+338 with the TTM coded mask telescope

    Science.gov (United States)

    Pan, H. C.; in 't Zand, J. J. M.; Skinner, G. K.; Borozdin, K. N.; Gil'Fanov, M. R.; Siuniaev, R. A.

    1993-01-01

    TTM observations in which the bright X-ray transient source GS2023+338 (=V404 Cyg) in the period June-August 1989 are reported. The observed spectral structure can be modeled using a model of a power-law source with a photon index of about 1.5, surrounded by partially ionized material. The observed X-rays consist of a component from the power-law source and those reflected (down-scattered) by the partially ionized material. Varying the clumpy structure or changing the ionization state of the circumstellar matter will cause the low-energy absorption to fluctuate.

  20. Characterization of the Streptococcus mutans GS-5 fruA gene encoding exo-beta-D-fructosidase.

    OpenAIRE

    Burne, R A; Penders, J E

    1992-01-01

    The complete nucleotide sequence (5,010 bp) of the fructanase gene (fruA) and flanking regions of the chromosome of Streptococcus mutans GS-5 was determined. The fruA gene appears to be the sole transcript arising from a proximal promoter. The presumed precursor of the secreted FruA protein consists of 1,423 amino acids, and it has an M(r) of 158,656 and a pI of 4.82. The N terminus of FruA has characteristics in common with signal peptides of gram-positive organisms. The C terminus consists ...

  1. Linking differential domain functions of the GS3 protein to natural variation of grain size in rice

    OpenAIRE

    Mao, Hailiang; Sun, Shengyuan; Yao, Jialing; Wang, Chongrong; Yu, Sibin; Xu, Caiguo; Li, Xianghua; Zhang, Qifa

    2010-01-01

    Grain yield in many cereal crops is largely determined by grain size. Here we report the genetic and molecular characterization of GS3, a major quantitative trait locus for grain size. It functions as a negative regulator of grain size and organ size. The wild-type isoform is composed of four putative domains: a plant-specific organ size regulation (OSR) domain in the N terminus, a transmembrane domain, a tumor necrosis factor receptor/nerve growth factor receptor (TNFR/NGFR) family cysteine-...

  2. 非均匀三次B样条曲线插值的GS-PIA算法%Non-uniform Cubic B-spline Curve Interpolation Algorithm of GS-PIA

    Institute of Scientific and Technical Information of China (English)

    刘晓艳; 邓重阳

    2015-01-01

    提出了非均匀三次B样条曲线插值的GS-PIA算法。该算法与解线性方程组的高斯-赛德尔迭代法有同样的优点,即把已经更新的点参与到迭代过程来优化迭代过程;同时也具有渐进迭代逼近方法的优点,即有明确的几何意义,并能得到一系列逐次逼近插值点的非均匀三次 B样条曲线。%This paper presents a non-uniform cubic B-spline curve interpolation algorithm of GS-PIA.The algorithm and the Gauss-Seidel iterative method of solving linear equations have the same advantages , namely the points involved in the iterative process which has been updated to optimize the iterative process .At the same time, the algorithm also has the advantage of progressive iterative approximation method , namely, there is a clear geometric significance , and can make a series of non-uniform cubic B-spline curve approximation interpolation points .

  3. Evaluation of tourism industry based on C2 R and C2 GS2 model%基于C2R和C2GS2模型的省域旅游业绩效评价

    Institute of Scientific and Technical Information of China (English)

    苏志平; 顾平

    2011-01-01

    Considering the development of tourism industry as a business input-output system, the C2R and C2GS2 model of data envelopment analysis (DEA) methods are used to study the tourism industry. From the comprehensive efficiency, scale efficiency, technical efficiency and returns to scale, comparative evaluation of various regions tourism industry are done. The way to improve the performance of tourism industry is proposed. It may provide guidance for tourism policy.%通过将旅游业的发展视为一个投入产出系统,运用数据包络分析方法中的C2R模型和C2GS2模型对旅游业进行研究,从综合效率、规模效率、技术效率、规模收益等方面对我国省域旅游业进行比较评价,进而提出寻求提升旅游业经营绩效的途径,为旅游业决策提供指导.

  4. Allergic manifestations and cutaneous histamine responses in patients with McCune Albright syndrome

    OpenAIRE

    Jacobson, Jill D.; Turpin, Angela L.; Sands, Scott A.

    2013-01-01

    Background McCune Albright syndrome (MAS) is a rare disorder characterized by precocious puberty, café-au-lait spots, and fibrous dysplasia. Its cause is an activating mutation in the GNAS gene, encoding a subunit of the stimulatory G protein, Gsalpha (Gsα). The action of any mediator that signals via Gsα and cyclic AMP can be up regulated in MAS. We had observed gastritis, gastroesophageal reflux, and anaphylaxis in McCune Albright patients. Objective As histamine is known to signal via hist...

  5. Hypokalemic paralysis due to thyrotoxicosis accompanied by Gitelman′s syndrome

    Directory of Open Access Journals (Sweden)

    S Baldane

    2015-01-01

    Full Text Available A 35-year-old male patient was admitted with fatigue and muscle weakness. He had been on methimazole due to thyrotoxicosis for 2 weeks. Laboratory tests showed overt hyperthyroidism and hypokalemia. Potassium replacement was started with an initial diagnosis of thyrotoxic hypokalemic periodic paralysis. Later on, despite the euthyroid condition and potassium chloride treatment, hypokalemia persisted. Further investigations revealed hyperreninemic hyperaldosteronism. The patient was considered to have Gitelman′s syndrome (GS and all genetic analysis was done. A c. 1145C>T, p.Thr382Met homozygote missense mutation located on solute carrier family 12, member gene 3, exon 9 was detected and GS was confirmed.

  6. 大豆谷氨酰胺合成酶基因的分类及根瘤特异表达GmGS1β2基因功能的初步分析%Classification of Glutamine Synthetase Gene and Preliminary Functional Analysis of the Nodule-Predominantly Expressed Gene GmGS1β2 in Soybean

    Institute of Scientific and Technical Information of China (English)

    王晓波; 滕婉; 何雪; 童依平

    2013-01-01

    从Phytozome数据库中获得包括大豆在内的12种植物的谷氨酰胺合成酶(glutamine synthetase,GS)氨基酸序列,利用MEGA5.10软件进行多序列比对、构建进化树.进化分析表明,植物GS可以分成胞质型(GS1)和质体型(GS2)两大类,GS1可进一步分成分5个亚类,包括双子叶植物为主的Ⅰ、Ⅱ和Ⅲ亚类、低等植物类(Ⅳ)和单子叶植物类(Ⅴ).这5亚类中,第Ⅱ类是豆科植物特有的一类,大豆的4个GS1 (GmGS1β1/2和GmGS1γ1/2)属于该亚类;利用qPCR在大豆盛花期分析GS1基因的组织表达特异性,结果表明不同类型GmGS1基因在表达部位和表达丰度上存在较大差异,而同一类基因之间具有相似的表达规律;4个豆科植物特有的GS1基因在大豆根瘤中都有较高的表达量,其中位于大豆第18染色体上的GmGS1β2基因表达丰度最高;利用原核表达系统体外表达GmGS 1β2蛋白,诱导出分子量大小与理论预测值一致的目标蛋白,酶活性分析表明GmGS 1β2可以与底物发生催化反应,具有谷氨酰胺合成酶活性,推测该基因在大豆根瘤氮素同化代谢中具有重要作用.

  7. A possible association between space weather conditions and the risk of acute coronary syndrome in patients with diabetes and the metabolic syndrome

    Science.gov (United States)

    Vencloviene, Jone; Babarskiene, Ruta Marija; Kiznys, Deivydas

    2017-01-01

    Hyperglycemia negatively affects cardiovascular variables that are also adversely affected by increased geomagnetic activity. It is likely that geomagnetic storms (GS) could have a stronger negative impact on these patients. We analyzed data on 1548 randomly selected patients with acute coronary syndrome (ACS) who were admitted inpatient treatment in Kaunas city, during 2000-2003. We evaluated the associations of GS, solar proton events (SPE), and high-speed solar wind (HSSW) (solar wind speed ≥600 km/s) with the risk of ACS in patients with diabetes mellitus (DM) and the metabolic syndrome (MS) by using logistic regression with categorical predictors. During days of HSSW, the risk of ACS in DM patients increased by 1.95 times (OR = 1.95, 95 % CI 1.36-2.79) as compared to days without either of these events or 2 days prior to or after them. In the multivariate model, the risk of ACS in DM patients was associated with days of HSSW and 1-2 days after (OR = 1.40, 95 % CI 1.01-1.93), with days of GS lasting >1 day and occurring on days of HSSW or 1-2 days after (OR = 2.31, 95 % CI 1.28-4.17), and with the onset of SPE (OR = 2.72 (1.09-6.83)). The risk of ACS in MS patients was associated with days of GS and 1-2 days prior or after GS (OR = 1.31 (1.00-1.73)); an additional impact was established if these days coincided with days of HSSW or 1-2 days before (OR = 2.16 (1.39-3.35)). These findings suggest that not only GS but also HSSW and changes in space weather conditions prior to SPE affect the human cardiovascular system.

  8. A possible association between space weather conditions and the risk of acute coronary syndrome in patients with diabetes and the metabolic syndrome

    Science.gov (United States)

    Vencloviene, Jone; Babarskiene, Ruta Marija; Kiznys, Deivydas

    2016-06-01

    Hyperglycemia negatively affects cardiovascular variables that are also adversely affected by increased geomagnetic activity. It is likely that geomagnetic storms (GS) could have a stronger negative impact on these patients. We analyzed data on 1548 randomly selected patients with acute coronary syndrome (ACS) who were admitted inpatient treatment in Kaunas city, during 2000-2003. We evaluated the associations of GS, solar proton events (SPE), and high-speed solar wind (HSSW) (solar wind speed ≥600 km/s) with the risk of ACS in patients with diabetes mellitus (DM) and the metabolic syndrome (MS) by using logistic regression with categorical predictors. During days of HSSW, the risk of ACS in DM patients increased by 1.95 times (OR = 1.95, 95 % CI 1.36-2.79) as compared to days without either of these events or 2 days prior to or after them. In the multivariate model, the risk of ACS in DM patients was associated with days of HSSW and 1-2 days after (OR = 1.40, 95 % CI 1.01-1.93), with days of GS lasting >1 day and occurring on days of HSSW or 1-2 days after (OR = 2.31, 95 % CI 1.28-4.17), and with the onset of SPE (OR = 2.72 (1.09-6.83)). The risk of ACS in MS patients was associated with days of GS and 1-2 days prior or after GS (OR = 1.31 (1.00-1.73)); an additional impact was established if these days coincided with days of HSSW or 1-2 days before (OR = 2.16 (1.39-3.35)). These findings suggest that not only GS but also HSSW and changes in space weather conditions prior to SPE affect the human cardiovascular system.

  9. A 4.2 GS/sec. Synchronized Vertical Excitation System for SPS Studies - Steps Toward Wideband Feedback

    Energy Technology Data Exchange (ETDEWEB)

    Fox, John

    2012-07-10

    A 4.2 GS/sec. beam excitation system with accelerator synchronization and power stages is described. The system is capable of playing unique samples (32 samples/bunch) for 15,000 turns on selected bunch(es) in the SPS in syn- chronism with the injection and acceleration cycle. The purpose of the system is to excite internal modes of single-bunch vertical motion, and study the bunch dynamics in the presence of developing Electron cloud or TMCI effects. The system includes a synchronized master oscillator, SPS timing functions, an FPGA based arbitrary waveform generator, 4.2 GS/sec. D/A system and four 80W 20-1000 MHz amplifiers driving a tapered stripline pickup/kicker. A software GUI allows specification of various modulation signals, selection of bunches and turns to excite, while a remote control interface allows simple control/monitoring of the RF power stages located in the tunnel. The successful use of this system for SPS MD measurements in 2011 is a vital proof-of-principle for wideband feedback using similar functions to correct the beam motion.

  10. MBI-GS: APLICAÇÃO E VERIFICAÇÃO PSICOMÉTRICA NA REALIDADE BRASILEIRA

    Directory of Open Access Journals (Sweden)

    Marcelo da Silva Schuster

    2015-03-01

    Full Text Available O presente estudo tem por objetivo verificar a aplicação da escala MBI-GS (Maslach Burnout Inventory e suas três dimensões (exaustão, cinismo e eficácia no trabalho em um hospital público brasileiro com uma população de servidores da área médica e administrativa, caracterizando assim o uso da versão General Survey. A amostra considerada para efeito das análises realizadas foi de 173 profissionais, através da aplicação de questionário estruturado. Os dados foram submetidos a análises quantitativas (análise fatorial exploratória, confiabilidade, teste de correlação e regressão. Os resultados apontam para a aplicabilidade da escala, após procedimentos fatoriais, a escala ficou com 15 variáveis permanecendo com três fatores, apresentando uma confiabilidade de 0,87. A síndrome Burnout correlacionou-se a percepção de Saúde dos trabalhadores, confirmando relação causal na saúde dos trabalhadores. O estudo contribui para o estudo de Burnout no Brasil com a aplicação da MBI-GS de forma inédita em um Hospital Público.

  11. Linking differential domain functions of the GS3 protein to natural variation of grain size in rice.

    Science.gov (United States)

    Mao, Hailiang; Sun, Shengyuan; Yao, Jialing; Wang, Chongrong; Yu, Sibin; Xu, Caiguo; Li, Xianghua; Zhang, Qifa

    2010-11-09

    Grain yield in many cereal crops is largely determined by grain size. Here we report the genetic and molecular characterization of GS3, a major quantitative trait locus for grain size. It functions as a negative regulator of grain size and organ size. The wild-type isoform is composed of four putative domains: a plant-specific organ size regulation (OSR) domain in the N terminus, a transmembrane domain, a tumor necrosis factor receptor/nerve growth factor receptor (TNFR/NGFR) family cysteine-rich domain, and a von Willebrand factor type C (VWFC) in the C terminus. These domains function differentially in grain size regulation. The OSR domain is both necessary and sufficient for functioning as a negative regulator. The wild-type allele corresponds to medium grain. Loss of function of OSR results in long grain. The C-terminal TNFR/NGFR and VWFC domains show an inhibitory effect on the OSR function; loss-of-function mutations of these domains produced very short grain. This study linked the functional domains of the GS3 protein to natural variation of grain size in rice.

  12. Afferent facilitation of corticomotor responses is increased by IgGs of patients with NMDA-receptor antibodies.

    Science.gov (United States)

    Manto, Mario; Dalmau, Josep; Didelot, Adrien; Rogemond, Véronique; Honnorat, Jérôme

    2011-01-01

    A severe subacute encephalitis associated with auto-antibodies to the NMDA receptor (NMDA-R) has been reported in humans. These antibodies are directed to NR1/NR2 heteromers of the NMDA receptor. We studied the effects of patients' cerebrospinal fluid (CSF) injected in rFr2 (the prefrontal area) on the afferent facilitation in a conditioning paradigm for corticomotor responses. The afferent facilitation was assessed in forelimbs and hindlimbs of rats, before and after application of trains of high-frequency stimulation (HFS) which are known to modulate the excitability of M1. Before HFS, patients' CSF did not modify afferent facilitation. After HFS, the amplitudes of corticomotor responses before conditioning were significantly larger in forelimbs and hindlimbs. There was an increase of the afferent facilitation in forelimbs. The same effect was observed after injection of purified IgGs from patients' sera. Our results highlight that IgGs of patients with NMDA-R antibodies induce a state of corticomotor hyperexcitability following application of HFS over the prefrontal area.

  13. Modelling LAI at a regional scale with ISBA-A-gs: comparison with satellite-derived LAI over southwestern France

    Directory of Open Access Journals (Sweden)

    A. Brut

    2009-08-01

    Full Text Available A CO2-responsive land surface model (the ISBA-A-gs model of Météo-France is used to simulate photosynthesis and Leaf Area Index (LAI in southwestern France for a 3-year period (2001–2003. A domain of about 170 000 km2 is covered at a spatial resolution of 8 km. The capability of ISBA-A-gs to reproduce the seasonal and the interannual variability of LAI at a regional scale, is assessed with satellite-derived LAI products. One originates from the CYCLOPES programme using SPOT/VEGETATION data, and two products are based on MODIS data. The comparison reveals discrepancies between the satellite LAI estimates and between satellite and simulated LAI values, both in their intensity and in the timing of the leaf onset. The model simulates higher LAI values for the C3 crops than the satellite observations, which may be due to a saturation effect within the satellite signal or to uncertainties in model parameters. The simulated leaf onset presents a significant delay for C3 crops and mountainous grasslands. In-situ observations at a mid-altitude grassland site show that the generic temperature response of photosynthesis used in the model is not appropriate for plants adapted to the cold climatic conditions of the mountainous areas. This study demonstrates the potential of LAI remote sensing products for identifying and locating models' shortcomings at a regional scale.

  14. Modelling LAI at a regional scale with ISBA-A-gs: comparison with satellite-derived LAI over southwestern France

    Directory of Open Access Journals (Sweden)

    A. Brut

    2009-04-01

    Full Text Available A CO2-responsive land surface model (the ISBA-A-gs model of Météo-France is used to simulate photosynthesis and Leaf Area Index (LAI in southwestern France for a 3-year period (2001–2003. A domain of about 170 000 km2 is covered at a spatial resolution of 8 km. The capability of ISBA-A-gs to reproduce the seasonal and the inter-annual variability of LAI at a regional scale, is assessed with two satellite-derived LAI products. One originates from the CYCLOPES programme using SPOT/VEGETATION data, and the second is based on MODIS data. The comparison reveals discrepancies between the two satellite LAI estimates and between satellite and simulated LAI values, both in their intensity and in the timing of the leaf onset. The model simulates higher LAI values for the C3 crops and coniferous trees than the satellite observations, which may be due to a saturation effect within the satellite signal. The simulated leaf onset presents a significant delay for mountainous grasslands. In-situ observations at a mid-altitude grassland site show that the generic temperature response of photosynthesis used in the model is not appropriate for plants adapted to the cold climatic conditions of the mountainous areas. This study demonstrates the potential of LAI remote sensing products for identifying and locating models' shortcomings at a regional scale.

  15. A 4.2 GS/s Synchronized Vertical Excitation System for SPS Studies - Steps Toward Wideband Feedback

    CERN Document Server

    Fox, JD; Rivetta, C; Rivetta, I; Turgut, O; Uemura, S; Hofle, W; Wehrle, U.

    2012-01-01

    A 4.2 GS/sec. beam excitation system with accelerator synchronization and power stages is described. The system is capable of playing unique samples (32 samples/bunch) for 15,000 turns on selected bunch(es) in the SPS in synchronism with the injection and acceleration cycle. The purpose of the system is to excite internal modes of singlebunch vertical motion, and study the bunch dynamics in the presence of developing Electron cloud or TMCI effects. The system includes a synchronized master oscillator, SPS timing functions, an FPGA based arbitrary waveform generator, 4.2 GS/sec. D/A system and four 80W 20 -1000 MHz amplifiers driving a tapered stripline pickup/kicker. A software GUI allows specification of various modulation signals, selection of bunches and turns to excite, while a remote control interface allows simple control/monitoring of the RF power stages located in the tunnel. The successful use of this system for SPS MD measurements in 2011 is a vital proof-of-principle for wideband feedback using s...

  16. Modelling LAI at a regional scale with ISBA-A-gs: comparison with satellite-derived LAI over southwestern France

    Science.gov (United States)

    Brut, A.; Rüdiger, C.; Lafont, S.; Roujean, J.-L.; Calvet, J.-C.; Jarlan, L.; Gibelin, A.-L.; Albergel, C.; Le Moigne, P.; Soussana, J.-F.; Klumpp, K.

    2009-04-01

    A CO2-responsive land surface model (the ISBA-A-gs model of Météo-France) is used to simulate photosynthesis and Leaf Area Index (LAI) in southwestern France for a 3-year period (2001-2003). A domain of about 170 000 km2 is covered at a spatial resolution of 8 km. The capability of ISBA-A-gs to reproduce the seasonal and the inter-annual variability of LAI at a regional scale, is assessed with two satellite-derived LAI products. One originates from the CYCLOPES programme using SPOT/VEGETATION data, and the second is based on MODIS data. The comparison reveals discrepancies between the two satellite LAI estimates and between satellite and simulated LAI values, both in their intensity and in the timing of the leaf onset. The model simulates higher LAI values for the C3 crops and coniferous trees than the satellite observations, which may be due to a saturation effect within the satellite signal. The simulated leaf onset presents a significant delay for mountainous grasslands. In-situ observations at a mid-altitude grassland site show that the generic temperature response of photosynthesis used in the model is not appropriate for plants adapted to the cold climatic conditions of the mountainous areas. This study demonstrates the potential of LAI remote sensing products for identifying and locating models' shortcomings at a regional scale.

  17. Metabolic Syndrome

    Science.gov (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  18. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, ... fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, ...

  19. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  20. Fahr's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Fahr's Syndrome Information Page Fahr's Syndrome Information Page What research is being done? ... and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to ...

  1. GS 455534 selectively suppresses binge eating of palatable food and attenuates dopamine release in the accumbens of sugar-bingeing rats.

    Science.gov (United States)

    Bocarsly, Miriam E; Hoebel, Bartley G; Paredes, Daniel; von Loga, Isabell; Murray, Susan M; Wang, Miaoyuan; Arolfo, Maria P; Yao, Lina; Diamond, Ivan; Avena, Nicole M

    2014-04-01

    Binge eating palatable foods has been shown to have behavioral and neurochemical similarities to drug addiction. GS 455534 is a highly selective reversible aldehyde dehydrogenase 2 inhibitor that has been shown to reduce alcohol and cocaine intake in rats. Given the overlaps between binge eating and drug abuse, we examined the effects of GS 455534 on binge eating and subsequent dopamine release. Sprague-Dawley rats were maintained on a sugar (experiment 1) or fat (experiment 2) binge eating diet. After 25 days, GS 455534 was administered at 7.5 and 15 mg/kg by an intraperitoneal injection, and food intake was monitored. In experiment 3, rats with cannulae aimed at the nucleus accumbens shell were maintained on the binge sugar diet for 25 days. Microdialysis was performed, during which GS 455534 15 mg/kg was administered, and sugar was available. Dialysate samples were analyzed to determine extracellular levels of dopamine. In experiment 1, GS 455534 selectively decreased sugar intake food was made available in the Binge Sugar group but not the Ad libitum Sugar group, with no effect on chow intake. In experiment 2, GS 455534 decreased fat intake in the Binge Fat group, but not the Ad libitum Fat group, however, it also reduced chow intake. In experiment 3, GS 455534 attenuated accumbens dopamine release by almost 50% in binge eating rats compared with the vehicle injection. The findings suggest that selective reversible aldehyde dehydrogenase 2 inhibitors may have the therapeutic potential to reduce binge eating of palatable foods in clinical populations.

  2. A Mutational Analysis of Residues in Cholera Toxin A1 Necessary for Interaction with Its Substrate, the Stimulatory G Protein Gsα

    Directory of Open Access Journals (Sweden)

    Michael G. Jobling

    2015-03-01

    Full Text Available Pathogenesis of cholera diarrhea requires cholera toxin (CT-mediated adenosine diphosphate (ADP-ribosylation of stimulatory G protein (Gsα in enterocytes. CT is an AB5 toxin with an inactive CTA1 domain linked via CTA2 to a pentameric receptor-binding B subunit. Allosterically activated CTA1 fragment in complex with NAD+ and GTP-bound ADP-ribosylation factor 6 (ARF6-GTP differs conformationally from the CTA1 domain in holotoxin. A surface-exposed knob and a short α-helix (formed, respectively, by rearranging “active-site” and “activation” loops in inactive CTA1 and an ADP ribosylating turn-turn (ARTT motif, all located near the CTA1 catalytic site, were evaluated for possible roles in recognizing Gsα. CT variants with one, two or three alanine substitutions at surface-exposed residues within these CTA1 motifs were tested for assembly into holotoxin and ADP-ribosylating activity against Gsα and diethylamino-(benzylidineamino-guanidine (DEABAG, a small substrate predicted to fit into the CTA1 active site. Variants with single alanine substitutions at H55, R67, L71, S78, or D109 had nearly wild-type activity with DEABAG but significantly decreased activity with Gsα, suggesting that the corresponding residues in native CTA1 participate in recognizing Gsα. As several variants with multiple substitutions at these positions retained partial activity against Gsα, other residues in CTA1 likely also participate in recognizing Gsα.

  3. The Populus superoxide dismutase gene family and its responses to drought stress in transgenic poplar overexpressing a pine cytosolic glutamine synthetase (GS1a.

    Directory of Open Access Journals (Sweden)

    Juan Jesús Molina-Rueda

    Full Text Available BACKGROUND: Glutamine synthetase (GS plays a central role in plant nitrogen assimilation, a process intimately linked to soil water availability. We previously showed that hybrid poplar (Populus tremula X alba, INRA 717-1B4 expressing ectopically a pine cytosolic glutamine synthetase gene (GS1a display enhanced tolerance to drought. Preliminary transcriptome profiling revealed that during drought, members of the superoxide dismutase (SOD family were reciprocally regulated in GS poplar when compared with the wild-type control, in all tissues examined. SOD was the only gene family found to exhibit such patterns. RESULTS: In silico analysis of the Populus genome identified 12 SOD genes and two genes encoding copper chaperones for SOD (CCSs. The poplar SODs form three phylogenetic clusters in accordance with their distinct metal co-factor requirements and gene structure. Nearly all poplar SODs and CCSs are present in duplicate derived from whole genome duplication, in sharp contrast to their predominantly single-copy Arabidopsis orthologs. Drought stress triggered plant-wide down-regulation of the plastidic copper SODs (CSDs, with concomitant up-regulation of plastidic iron SODs (FSDs in GS poplar relative to the wild type; this was confirmed at the activity level. We also found evidence for coordinated down-regulation of other copper proteins, including plastidic CCSs and polyphenol oxidases, in GS poplar under drought conditions. CONCLUSIONS: Both gene duplication and expression divergence have contributed to the expansion and transcriptional diversity of the Populus SOD/CCS families. Coordinated down-regulation of major copper proteins in drought-tolerant GS poplars supports the copper cofactor economy model where copper supply is preferentially allocated for plastocyanins to sustain photosynthesis during drought. Our results also extend previous findings on the compensatory regulation between chloroplastic CSDs and FSDs, and suggest that this

  4. A mutational analysis of residues in cholera toxin A1 necessary for interaction with its substrate, the stimulatory G protein Gsα.

    Science.gov (United States)

    Jobling, Michael G; Gotow, Lisa F; Yang, Zhijie; Holmes, Randall K

    2015-03-18

    Pathogenesis of cholera diarrhea requires cholera toxin (CT)-mediated adenosine diphosphate (ADP)-ribosylation of stimulatory G protein (Gsα) in enterocytes. CT is an AB5 toxin with an inactive CTA1 domain linked via CTA2 to a pentameric receptor-binding B subunit. Allosterically activated CTA1 fragment in complex with NAD+ and GTP-bound ADP-ribosylation factor 6 (ARF6-GTP) differs conformationally from the CTA1 domain in holotoxin. A surface-exposed knob and a short α-helix (formed, respectively, by rearranging "active-site" and "activation" loops in inactive CTA1) and an ADP ribosylating turn-turn (ARTT) motif, all located near the CTA1 catalytic site, were evaluated for possible roles in recognizing Gsα. CT variants with one, two or three alanine substitutions at surface-exposed residues within these CTA1 motifs were tested for assembly into holotoxin and ADP-ribosylating activity against Gsα and diethylamino-(benzylidineamino)-guanidine (DEABAG), a small substrate predicted to fit into the CTA1 active site). Variants with single alanine substitutions at H55, R67, L71, S78, or D109 had nearly wild-type activity with DEABAG but significantly decreased activity with Gsα, suggesting that the corresponding residues in native CTA1 participate in recognizing Gsα. As several variants with multiple substitutions at these positions retained partial activity against Gsα, other residues in CTA1 likely also participate in recognizing Gsα.

  5. Calcium Unresponsive Hypocalcemic Tetany: Gitelman Syndrome with Hypocalcemia

    Directory of Open Access Journals (Sweden)

    Madhav Desai

    2013-01-01

    Full Text Available Introduction. Gitelman’s syndrome (GS is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. It is usually associated with normal serum calcium. We report a patient presented with hypocalcemic tetany, and evaluation showed Gitelman’s syndrome with hypocalcemia. Case Report. A 28-year-old woman presented with cramps of the arms, legs, fatigue, and carpal spasms of one week duration. She has history of similar episodes on and off for the past two years. Her blood pressure was 98/66 mmHg. Chvostek’s sign and Trousseau’s sign were positive. Evaluation showed hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Self-medication, diuretic use, laxative abuse, persistent vomiting, and diarrhoea were ruled out. Urinary prostaglandins and genetic testing could not be done because of nonavailability. To differentiate Gitelman syndrome from Bartter’s syndrome (BS, thiazide loading test was done. It showed blunted fractional chloride excretion. GS was confirmed and patient was treated with spironolactone along with magnesium, calcium, and potassium supplementation. Symptomatically, she improved and did not develop episodes of tetany again. Conclusion. In tetany patient along with serum calcium measurement, serum magnesium, serum potassium, and arterial blood gases should be measured. Even though hypocalcemia in Gitelman syndrome is rare, it still can occur.

  6. Calcium unresponsive hypocalcemic tetany: gitelman syndrome with hypocalcemia.

    Science.gov (United States)

    Desai, Madhav; Kolla, Praveen Kumar; Reddy, P L Venkata Pakki

    2013-01-01

    Introduction. Gitelman's syndrome (GS) is autosomal recessive renal tubular disorder characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. It is usually associated with normal serum calcium. We report a patient presented with hypocalcemic tetany, and evaluation showed Gitelman's syndrome with hypocalcemia. Case Report. A 28-year-old woman presented with cramps of the arms, legs, fatigue, and carpal spasms of one week duration. She has history of similar episodes on and off for the past two years. Her blood pressure was 98/66 mmHg. Chvostek's sign and Trousseau's sign were positive. Evaluation showed hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Self-medication, diuretic use, laxative abuse, persistent vomiting, and diarrhoea were ruled out. Urinary prostaglandins and genetic testing could not be done because of nonavailability. To differentiate Gitelman syndrome from Bartter's syndrome (BS), thiazide loading test was done. It showed blunted fractional chloride excretion. GS was confirmed and patient was treated with spironolactone along with magnesium, calcium, and potassium supplementation. Symptomatically, she improved and did not develop episodes of tetany again. Conclusion. In tetany patient along with serum calcium measurement, serum magnesium, serum potassium, and arterial blood gases should be measured. Even though hypocalcemia in Gitelman syndrome is rare, it still can occur.

  7. Biphasic Erk1/2 activation sequentially involving Gs and Gi signaling is required in beta3-adrenergic receptor-induced primary smooth muscle cell proliferation.

    Science.gov (United States)

    Hadi, Tarik; Barrichon, Marina; Mourtialon, Pascal; Wendremaire, Maeva; Garrido, Carmen; Sagot, Paul; Bardou, Marc; Lirussi, Frédéric

    2013-05-01

    The beta3 adrenergic receptor (B3-AR) reportedly induces cell proliferation, but the signaling pathways that were proposed, involving either Gs or Gi coupling, remain controversial. To further investigate the role of G protein coupling in B3-AR induced proliferation, we stimulated primary human myometrial smooth muscle cells with SAR150640 (B3-AR agonist) in the absence or presence of variable G-protein inhibitors. Specific B3-AR stimulation led to an Erk1/2 induced proliferation. We observed that the proliferative effects of B3-AR require two Erk1/2 activation peaks (the first after 3min, the second at 8h). Erk1/2 activation at 3min was mimicked by forskolin (adenylyl-cyclase activator), and was resistant to pertussis toxin (Gi inhibitor), suggesting a Gs protein signaling. This first signaling also required the downstream Gs signaling effectors PKA and Src. However, Erk1/2 activation at 8h turned out to be pertussis toxin-dependent, and PKA-independent, indicating a Gi signaling pathway in which Src and PI3K were required. The pharmacological inhibition of both the Gs and Gi pathway abolished B3-AR-induced proliferation. Altogether, these data indicate that B3-AR-induced proliferation depends on the biphasic activation of Erk1/2 sequentially induced by the Gs/PKA/Src and Gi/Src/PI3K signaling pathways. Copyright © 2013 Elsevier B.V. All rights reserved.

  8. Enhancement of humoral immunity in mice by coupling pUCpGs10 and aluminium to the HCV recombinant immunogen

    Directory of Open Access Journals (Sweden)

    Zhan Na

    2011-11-01

    Full Text Available Abstract Aim To investigate the enhancement of humoral immunity when CpG ODN (cytidine phosphate guanosine oligodeoxynucleotides and aluminium adjuvants are complexed with the HCV (Hepatitis C virus recombinant immunogen in mice. Methods After immunizing Balb/c mice with the recombination HCV antigen adjuvanted with pUCpGs10 and/or aluminium(antigen+CpG+alum, antigen+CpG, antigen+alum, antigen+PBS, enzyme-linked immunosorbent assay (ELISA was used to measure the specific serum antibody titers of IgG, to determine the neutralization response to various peptide genotypes, and to determine the concentration of IL-6 and IL-10 in supernatants of in vitro cultured splenic lymphocytes. Enzyme-linked immunospot assay (ELISPOT was used to quantify the non-specific and specific splenic antibody-secreting cells (ASCs, and flow cytometry (FCM determined the ratio of different splenic lymphocytes. The serum of rabbits immunized with the recombinant pBVGST/HVR1 antigen immunoprecipitated the HCV isolated from 12 patients' serum. Results The sera antibody titers were 1:51200, 1:9051, 1:18102, 1:6400 respectively after the final immunization and demonstrated good neutralization responses to the six gene peptide containing 1a, 1b, 2a, 3a, 4a and 6a. The aluminum adjuvant increased the population of both specific ASCs (P +CD27+ (P +CD38+ splenic lymphocytes with the aluminum and pUCpGs10 adjuvant present compared to the control group(P Conclusions 1. The aluminum adjuvant induces a potent Th2-biased immune response by increasing both the populations of specific and total ASCs and the ratio of CD19+CD27+ cells. 2. The pUCpGs10 complexed with the aluminum adjuvant boosts the population of plasma cells and increase the efficiency of the immune response. 3. The two adjuvants have synergistic effects on humoral immunity. 4. The recombinant HVR1 protein has the possibility of generating broadly reactive anti-HVR1 antibody.

  9. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  10. NuSTAR observations of the black holes GS 1354-645: Evidence of rapid black hole spin

    DEFF Research Database (Denmark)

    El-Batal, A. M.; Miller, J. M.; Reynolds, M. T.

    2016-01-01

    We present the results of a NuSTAR study of the dynamically confirmed stellar-mass black hole GS 1354-645. The source was observed during its 2015 "hard" state outburst; we concentrate on spectra from two relatively bright phases. In the higher-flux observation, the broadband NuSTAR spectra reveal...... a clear, strong disk reflection spectrum, blurred by a degree that requires a black hole spin of a = cf/GM(2) >= 0.98 (1 sigma statistical limits only). The fits also require a high inclination: 0 similar or equal to 75 (2)degrees. Strong "dips" are sometimes observed in the X-ray light curves of sources...... in stellar-mass black holes, and inner accretion flow geometries at moderate accretion rates....

  11. Appraisement on Contributive Ratio of Scientific and Technical Progresses in Milk Productive Enterprises by Model C2GS2

    Institute of Scientific and Technical Information of China (English)

    SUN Futian; SUN Liqun; YANG Guanglin

    2008-01-01

    Scientific and technical progress has been the driving forces of enterprises development. Milk productive enterprises are developing faster and growing better. It is very important to measure the contributive ratio of scientific and technical progress in milk productive enterprises. And the appraisement could help to develop milk productive enterprises. The model C2GS2 was established to appraise the contributive ratio of scientific and technical progress in milk productive enterprises in the research. And the appraisement on the contributive ratio of scientific and technical progress in milk productive enterprises was made by the model. In the results of appraisement, science and technology play a main role in milk productive enterprises. It is shown that our milk productive enterprises are developed by scientific and technical progress while not by input of productive factors.

  12. PSD-95 regulates D1 dopamine receptor resensitization, but not receptor-mediated Gs-protein activation

    Institute of Scientific and Technical Information of China (English)

    Peihua Sun; Jingru Wang; Weihua Gu; Wei Cheng; Guo-zhang Jin; Eitan Friedman; Jie Zheng; Xuechu Zhen

    2009-01-01

    The present study aims to define the role of postsynaptic density (PSD)-95 in the regulation of dopamine (DA) receptor function. We found that PSD-95 physically associates with either D1 or D2 DA receptors in co-transfected HEK-293 cells. Stimulation of DA receptors altered the association between D1 receptor and PSD-95 in a time-depen-dent manner. Functional assays indicated that PSD-95 co-expression did not affect D1 receptor-stimulated cAMP pro-duction, Gs-protein activation or receptor desensitization. However, PSD-95 accelerated the recovery of internalized membrane receptors by promoting receptor recycling, thus resulting in enhanced resensitization of internalized D1 receptors. Our results provide a novel mechanism for regulating DA receptor recycling that may play an important role in postsynaptic DA functional modulation and synaptic neuroplasticity.

  13. Control of intrabunch dynamics at CERN SPS ring using 3.2 GS/s digital feedback channel

    CERN Document Server

    Rivetta, C; Cesaratto, J M; Dusatko, J; Pivi, M; Pollock, K; Turgut, O; Bartosik, H; Hofle, W; Kotzian, G; Li, K

    2013-01-01

    The feedback control of intra-bunch instabilities driven by electron-cloud or strong head-tail interaction requires bandwidth sufficient to sense the vertical position and apply correction fields to multiple sections of a nanosecondscale bunch. These requirements impose challenges and limits in the design of the feedback channel. We present experimental measurements taken from the CERN SPS machine development studies with an intrabunch feedback channel prototype. The performance of a 3.2 GS/s digital processing system is evaluated, quantifying the effect of noise and limits of the feedback channel in the bunch stability as well as transient and steady state motion of the bunch. The controllers implemented are general purpose 16 tap FIR filters and the impact on the bunch stability of controller parameters are analyzed and quantified. These studies, based on the limited feedback prototype, are crucial to validate reduced models of the system and macroparticle simulation codes, including the feedback channel. T...

  14. GS118+0144: una supercáscara de H I con contrapartida en el IR medio y lejano

    Science.gov (United States)

    Suad, L. A.; Cichowolski, S.; Noriega-Crespo, A.; Arnal, E. M.; Testori, J. C.; Flagey, N.

    2016-08-01

    GS118+0144 is a supershell detected in the neutral hydrogen (H i) emission distribution, centred at ()=(117.7, 1.4) with a systemic velocity of kms, an effective radius of pc, and it is located at a distance of kpc from the Sun. The total gaseous mass associated with the supershell is M, and its kinetic energy is erg. Using mid- and far-infrared data a good morphological coincidence with the H i structure was detected indicating that the dust components coexist with the gas. Carrying out infrared fluxes measurements at different far-infrared bands the dust associated with this structure could be characterized and it was concluded that cool temperatures dominate the area of the supershell.

  15. Between celiac disease and irritable bowel syndrome: the "no man's land" of gluten sensitivity.

    Science.gov (United States)

    Verdu, Elena F; Armstrong, David; Murray, Joseph A

    2009-06-01

    The repertoire of gastrointestinal (GI) symptoms is finite; however, the etiologies and mechanisms underlying symptom generation and perception are diverse and, in many cases, unknown. This review examines the clinical and experimental evidence exploring the putative relationship between gluten sensitivity (GS) and the generation of GI symptoms. It explores the hypothesis that, in a proportion of patients, GS causes functional bowel disorder (FBD)-like symptoms. We propose a model for investigating and understanding the induction of GI symptoms and dysfunction by gluten in FBD and organic disease. We hypothesize that, even in the absence of fully developed celiac disease, gluten can induce symptoms similar to FBD. We discuss the hypothesis that GS and post-infectious irritable bowel syndrome (IBS) provide two triggers that can explain at least part of the spectrum that constitutes IBS, further advancing an understanding of the role of mucosal responses to luminal factors in FBDs. We propose that the animal model of GS in human leukocyte antigen (HLA)- DQ8 mice allows investigation of mucosal pathophysiological changes that occur before the onset of full-blown inflammation in a GS host. A better understanding of how gluten can cause symptoms in sensitive individuals will illuminate the interaction between host genotype, diet, and intestinal microbiota in generating one of the most common GI conditions.

  16. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mastroianni, N.; De Fusco, M.; Casari, G. [Univsersita` di Milano (Italy)] [and others

    1996-11-01

    A hereditary defect of the distal tubule accounts for the clinical features of Gitelman syndrome (GS), an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. Recently, we cloned the cDNA coding for the human Na-Cl thiazide-sensitive cotransporter (TSC; also known as {open_quotes}NCCT{close_quotes} or {open_quotes}SLC12A3{close_quotes}) as a possible candidate for GS, and Simon et al., independently, described rotation in patients with GS. Now, we show 12 additional mutations consistent with a loss of function of the Na-Cl cotransporter in GS. Two missense replacements, R09W and P349L, are common to both studies and could represent ancient mutations. The other mutations include three deletions, two insertions, and six missense mutations. When all mutations from both studies are considered, missense mutations seem to be more frequently localized within the intracellular domains of the molecule, rather than in transmembrane or extracellular domains. One family, previously reported as a GS form with dominant inheritance, has proved to be recessive, with the affected child being a compound heterozygote. A highly informative intragenic tetranucleotide marker, useful for molecular diagnostic studies, has been identified at the acceptor splice site of exon 9. 12 refs., 3 figs., 2 tabs.

  17. Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.

    Science.gov (United States)

    Akizawa, Yoshika; Miyashita, Toshiyuki; Sasaki, Ryo; Nagata, Reiko; Aoki, Ryoko; Ishitani, Ken; Nagashima, Yoji; Matsui, Hideo; Saito, Kayoko

    2016-04-01

    We describe a Gorlin syndrome (GS) case with two different second hit mutations of PTCH1, one in a keratocystic odontogenic tumor (KCOT) and the other in an ovarian leiomyoma. GS is a rare genetic condition manifesting as multiple basal cell nevi associated with other features such as medulloblastomas, skeletal abnormalities, and ovarian fibromas. A 21-year-old Japanese woman with a history of two KCOTs was diagnosed with GS according to clinical criteria. A PTCH1 mutation, c.1427del T, was detected in peripheral blood. A novel PTCH1 mutation, c.264_265insAATA, had been found in the maxillary KCOT as a second hit mutation. More recently, the ovarian tumor was detected during a gynecological examination. Laparoscopic adnexectomy was performed, and the pathological diagnosis of the ovarian tumor was leiomyoma. Interestingly, another novel mutation, loss of heterozygosity spanning from 9q22.32 to 9q31.2, including PTCH1 and 89 other genes, was detected in this ovarian tumor, providing evidence of a second hit mutation. This is the first report describing a GS-associated ovarian tumor carrying a second hit in the PTCH1 region. We anticipate that accumulation of more cases will clarify the importance of second hit mutations in ovarian tumor formation in GS.

  18. Geriatric syndromes are potential determinants of the medication adherence status in prevalent dialysis patients

    Directory of Open Access Journals (Sweden)

    Chia-Ter Chao

    2016-06-01

    Full Text Available Background. Geriatric syndromes (GS exhibit high prevalence in patients with end-stage renal disease (ESRD under chronic dialysis irrespective of age. We sought to determine whether GS influences medication adherence in ESRD patients. Methods. A prospective cohort of chronic dialysis patients was assembled. The presence of GS components, including frailty/prefrailty, polypharmacy, and malnutrition, were ascertained through a validated questionnaire, electronic records and chart abstraction, and laboratory tests. The severity of medication non-adherence was defined using the eight-item Morisky Medication Adherence Scale (MMAS. Multiple logistic regression analysis was performed targeting MMAS results and incorporating relevant clinical features and GS. Results. The prevalence of frailty/pre-frailty, polypharmacy, and hypoalbuminemia/ malnutrition among the enrolled participants was 66.7%, 94%, and 14%, respectively. The average MMAS scores in these dialysis patients were 2 ± 1.7 (range, 0–6, with only 15.7% exhibiting high medication adherence. Multiple regression analyses showed that the absence of frailty/pre-frailty (P = 0.01 were significantly associated with poorer medication adherence, while the presence of polypharmacy (P = 0.02 and lower serum albumin, a potential sign of malnutrition (P = 0.03, were associated with poor adherence in another model. Conclusion. This study is among the very few reports addressing GS and medication adherence, especially in ESRD patients. Interventions targeting frailty, polypharmacy, and malnutrition might potentially improve the medication non-adherence and symptom control in these pill-burdened patients.

  19. 野生大豆根瘤GmGS1γ基因序列分析及原核表达%Sequence Analysis and Prokaryotic Expression of GmGS1γGene from Nodules of Glycine soja

    Institute of Scientific and Technical Information of China (English)

    杨美英; 岳胜天; 韩红; 孙合美; 刘晶晶; 卢冬雪

    2016-01-01

    In order to clarify the structures and functions of the members of the glutamine synthetase(GS)gene family,the GmGS1 gene was cloned from Glycine soja by homologous cloning. The bioinformatics analysis showed that,the ORF was 1 071 bp,and the similarity was 100%and 99%with the partial sequence of soybean GS1γ(AF363022.1)and X81700.1,respectively. The sequence had two conserved domains of plant GS,beta-Grasp GS functional area(17-97 aa),and GS catalytic functional area(103-350 aa). Phylogenetic tree showed that GS encoded by the gene GmGS1 probably belonged to glutamine synthetase cytosolic isozyme 2. The gene was expressed in Escherichia coli DE3.0,and the molecular weight of the protein was 44 kD.%旨在明确大豆谷氨酰胺合成酶(Glutamine synthetase,GS)基因家族各成员的结构特点及功能。利用同源克隆的方法从野生大豆根瘤克隆GmGS1γ基因。生物信息学分析表明,ORF为1071 bp,与大豆GS1γ(AF363022.1)部分序列的相似性为100%,与序列号为X81700.1相似性为99%。该序列具备植物GS的两个保守结构域,GS beta-Grasp功能区(17-97 aa)和GS催化功能区(103-350 aa)。系统发生树表明该基因编码的GS可能属于胞质2型同工酶。该基因可以在大肠杆菌DE3.0中表达,蛋白分子量为44 kD。

  20. Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism

    Energy Technology Data Exchange (ETDEWEB)

    Graham, J.M. Jr.; Krakow, D.; Smith, A.K.; Lachman, R.S. [UCLA, Los Angeles, CA (United States). School of Medicine; Tolo, V.T. [Div. of Orthopedics, Children' s Hospital of Los Angeles, CA (United States)

    2001-01-01

    Acrodysostosis is an uncommon skeletal dysplasia associated with nasal hypoplasia, midface deficiency, severe brachydactyly, and varying degrees of hearing loss and mental retardation. Previous publications have suggested that it may be difficult to distinguish acrodystostosis from pseudohypoparathyroidism on clinical grounds, but acrodysostosis does appear to have distinct clinical and radiologic findings. Spinal stenosis is an underappreciated risk in acrodysostosis, despite the reported loss of normal caudal widening of the lumbar interpediculate distance on AP spine radiographs in the original report of this disorder by Robinow et al., with confirmation of these radiographic findings by Butler et al. We report two sporadic cases of acrodysostosis, one of which required decompressive laminectomy for symptomatic spinal stenosis, and review 11 cases of acrodysostosis from 9 families that were submitted to the International Skeletal Dysplasia Registry. The objective of this report is to determine the frequency and severity of spinal stenosis in patients with acrodysostosis and to summarize the clinical and radiographic findings of acrodysostosis in an effort to distinguish acrodysostosis clearly from pseudohypoparathyroidism. The pattern of brachydactyly differs between these two conditions, and varying degrees of spinal stenosis are characteristic of acrodysostosis. Both our index patients with acrodysostosis had normal bioactivity of the alpha subunit of the Gs protein, therefore indicating that acrodysostosis has a different pathogenesis from pseudohypoparathyroidism. Furthermore, single-strand confirmational polymorphism (SSCP) analysis failed to demonstrate any confirmational alterations in the coding exons of the Gs alpha gene. These radiographic and laboratory findings substantiate that acrodysostosis is clinically different from pseudohypoparathyroidism and that it is necessary to follow patients with acrodysostosis for signs of spinal stenosis. (orig.)

  1. Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.

    Science.gov (United States)

    Yu, D; Yu, S; Schuster, V; Kruse, K; Clericuzio, C L; Weinstein, L S

    1999-09-01

    Albright hereditary osteodystrophy (AHO) is a genetic disorder characterized by short stature, skeletal defects, and obesity. Within AHO kindreds, some affected family members have only the somatic features of AHO [pseudopseudohypoparathyroidism (PPHP)], whereas others have these features in association with resistance to multiple hormones that stimulate adenylyl cyclase within their target tissues [pseudohypoparathyroidism type Ia (PHP Ia)]. Affected members of most AHO kindreds (both those with PPHP and those with PHP Ia) have a partial deficiency of Gs alpha, the alpha-subunit of the G protein that couples receptors to adenylyl cyclase stimulation, and in a number of cases heterozygous loss of function mutations within the Gs alpha gene (GNAS1) have been identified. Using PCR with the attachment of a high melting domain (GC-clamp) and temperature gradient gel electrophoresis, two novel heterozygous frameshift mutations within GNAS1 were found in two AHO kindreds. In one kindred all affected members (both PHP Ia and PPHP) had a heterozygous 2-bp deletion in exon 8, whereas in the second kindred a heterozygous 2-bp deletion in exon 4 was identified in all affected members examined. In both cases the frameshift encoded a premature termination codon several codons downstream of the deletion. In the latter kindred affected members were previously shown to have decreased levels of GNAS1 messenger ribonucleic acid expression. These results further underscore the genetic heterogeneity of AHO and provides further evidence that PHP Ia and PPHP are two clinical presentations of a common genetic defect. Serial measurements of thyroid function in members of kindred 1 indicate that TSH resistance progresses with age and becomes more evident after the first year of life.

  2. Over-expression of a glutathione S-transferase gene, GsGST, from wild soybean (Glycine soja) enhances drought and salt tolerance in transgenic tobacco.

    Science.gov (United States)

    Ji, Wei; Zhu, Yanming; Li, Yong; Yang, Liang; Zhao, Xiaowen; Cai, Hua; Bai, Xi

    2010-08-01

    Glycine soja is a species of soybean that survives in adverse environments including high salt and drought conditions. We constructed a cDNA library from G. soja seedlings treated with NaCl and isolated a glutathione S-transferase gene (GsGST: GQ265911) from the library. The cDNA encoding GsGST contains an open reading frame of 660 bp and the predicted protein belongs to the tau class of GST family proteins. Tobacco plants over-expressing the GsGST gene showed sixfold higher GST activity than wild-type plants. Transgenic tobacco plants exhibited enhanced dehydration tolerance. T(2) transgenic tobacco plants showed higher tolerance at the seedling stage than wild-type plants to salt and mannitol as demonstrated by longer root length and less growth retardation.

  3. Immunocytochemical localization of glutamic acid decarboxylase (GAD) and glutamine synthetase (GS) in the area postrema of the cat. Light and electron microscopy

    Science.gov (United States)

    D'Amelio, Fernando E.; Mehler, William R.; Gibbs, Michael A.; Eng, Lawrence F.; Wu, Jang-Yen

    1987-01-01

    Morphological evidence is presented of the existence of the putative neurotransmitter gamma-aminobutyric acid (GABA) in axon terminals and of glutamine synthetase (GS) in ependymoglial cells and astroglial components of the area postrema (AP) of the cat. Purified antiserum directed against the GABA biosynthetic enzyme glutamic acid decarboxylase (GAD) and GS antiserum were used. The results showed that punctate structures of variable size corresponding to axon terminals exhibited GAD-immunoreactivity and were distributed in varying densities. The greatest accumulation occurred in the caudal and middle segment of the AP and particularly in the area subpostrema, where the aggregation of terminals was extremely dense. The presence of both GAD-immunoreactive profiles and GS-immunostained ependymoglial cells and astrocytes in the AP provide further evidence of the functional correlation between the two enzymes.

  4. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  5. A pedigree analysis of two homozygous mutant Gitelman syndrome cases.

    Science.gov (United States)

    Luo, Jiewei; Yang, Xiao; Liang, Jixing; Li, Weihua

    2015-01-01

    Gitelman syndrome (GS) is a salt-wasting tubulointerstitial disease of autosomal recessive inheritance (OMIM613395) caused by genic mutation of SLC12A3, which codes thiazide-sensitive Na-Cl cotransporter (NCCT) gene. The gene mutation of the majority of GS patients is compound heterozygous. This study analyzes two cases of GS gene mutation and the clinical phenotype. Twenty patients of two GS pedigrees underwent direct sequence alignment of 26 exons of SLC12A3 to spot and locate mutant site. Proband A of Pedigree I had three mutant sites: Arg928Cys, a homozygote, missense mutation, and two homozygous silent mutations, Ala122Ala and Thr465Thr, and 8 members of Pedigree I carried Arg928Cy heterozygous mutation. Proband B of Pedigree II had a homozygote, Ser710X, and a termination codon was spotted, which would inevitably be translated into abridged and defective protein, and 7 members had Ser710X heterozygous mutation. The heterozygous mutation carriers of the two pedigrees often have stimulus-controlled hypokalemia after strenuous exercise. The parents of Proband A are cousins, a case of intermarriage. Both probands show hypokalemia, hypochloraemia, hypocalcinuria, hyperreninemia, and hyperaldosteronemia; Proband A has normal serum magnesium and increased urinary sodium excretion, while Proband B has hypomagnesemia and increased urinary magnesium ion excretion. Both probands have normal or lower blood pressure, weakness and numbness of lower extremities, muscular soreness, and occasional palpitations and chest discomfort. Proband A wearies easily and Proband B has occasional joint numbness and pain. These two homozygous mutations are responsible for the morbidity of two GS families and they show heterogenicity of clinical phenotype.

  6. Frailty and geriatric syndromes in elderly assisted in primary health care

    Directory of Open Access Journals (Sweden)

    Vera Elizabeth Closs

    2016-06-01

    Full Text Available The aim of this study was to describe the association between frailty and geriatric syndromes (GS [cognitive impairment (CI; postural instability (PI; urinary/fecal incontinence (UFI; polypharmacy (PP; and immobility (IM] and the frequency of these conditions in elderly people assisted in primary health care. Five hundred twenty-one elderly participants of The Multidimensional Study of the Elderly in the Family Health Strategy (EMI-SUS were evaluated. Sociodemographic data, identification of frailty (Fried phenotype and GS were collected. Multinomial logistic regression analysis was performed. The frequency of frailty was 21.5%, prefrailty 51.1% and robustness 27.4%. The frequency of CI was 54.7%, PP 41.2%, PI 36.5%, UFI 14% and IM 5.8%. The odds of frailty when compared to robustness and adjusted for gender, age, depression, self-perception of health, nutritional status, falls, vision and hearing, was significantly higher in elderly with CI, PI and PP. The adjusted odds of prefrail when compared to robustness was significantly higher only in elderly with CI. The most frequently presented number of GS (0-5 was two geriatric syndromes (26.87%. The frequency of frailty was high among elderly in primary health care and was associated with three of five GS (CI - PI - PP.

  7. 基于0.18 μm CMOS工艺的2 GS/s 6 bit数模转换器%2 GS/s 6 bit DAC in 0.18 μm CMOS technology

    Institute of Scientific and Technical Information of China (English)

    张翼; 孟桥; 李小梅; 唐凯

    2012-01-01

    根据现代通信越来越高的传输速率和宽带要求,设计了一个可用于超宽带系统的无修正2GS/s,6 bit数模转换器.该转换器采用4+2的分段译码电流舵结构,其中高4位采用温度计码,低2位采用二进制码.在对关键单元电路进行了设计和分析之后,在中芯国际0.18 μmCMOS工艺下完成电路的版图设计和流片,芯片面积为975 μm×775 μm.对芯片进行的键合测试表明,其微分非线性为0.11 LSB,积分非线性为0.25 LSB;当采样时钟频率为2 GHz,输入信号频率为13.3 MHz时,无杂散动态范围为52.1 dB,功耗为79 mW.%According to the higher and higher transmission rate and broadband requirement of modern communication, the design and implementation of a 2 GS/s, 6 bit DAC ( digital-to-analog converter) without calibration used for the ultra-wideband (UWB) system is presented. This DAC is based on current steering architecture, and is segmented with a 4 bit unary and 2 bit binary. After a design and analysis of key cell circuit, the layout was designed and taped out in SMIC (semiconductor manufacturing international corporation) 0. 18 μm CMOS process, and the chip area is 975 μm x775 μm. The wafer bonding test results show that the DNL (differential nonlinearity) is 0. 11 LSB, INL( integral nonlinearity) is 0.25 LSB. The DAC can achieve an SFDR(spurious free dynamic range) of 52. 1 dB under a clock frequency of 2 GHz with an input signal frequency of 13. 3 MHz, while the power consumption is 79 mW.

  8. Gilbert′s syndrome in healthy blood donors what next??

    Directory of Open Access Journals (Sweden)

    Rajendra G Kulkarni

    2016-01-01

    Full Text Available Settings: This study was done in a tertiary care hospital having bed strength of more than 700 beds at SDM Medical College of Medical Sciences and Hospital, Dharwad, located in Northern Karnataka. Aim: The study was done to ascertain prevalence of Gilbert′s syndrome in healthy blood donors and review the literature about feasibility of utilizing blood components from Gilbert′s syndrome donors. Materials and Methods: The study was done for 18 months and 7030 whole blood units were collected and all the units were subjected to mandatory transfusion-transmitted screening and all the plasma bags which were icteric on visual inspection were subjected to hematological and biochemical investigations to rule out other causes of hyperbilirubinemia. Results: Seven thousand and thirty units were collected and 445 (6.3% were discarded due to various reasons. Of them, 50 units (0.71% had Gilbert′s syndrome. All had unconjugated hyperbilirubinemia and other hematological and liver function tests were within normal range. Statistical analysis was done to find mean, median, and standard deviation from mean and standard error of mean with lower and upper confidence limits. Conclusion: Majority of blood donors whose plasma is icteric are suffering from Gilbert′s syndrome (GS. This disease does not cause any harm to donor or patient but raises a lot of concern as many severe disorders also manifest in similar way. The available literature shows that all blood components can be used from donors suffering from GS. There should be introspection. Proper guidelines are to be framed about the use and discarding of blood components in donors with GS.

  9. Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome.

    Science.gov (United States)

    Yang, Sung-Sen; Lo, Yi-Fen; Yu, I-Shing; Lin, Shu-Wha; Chang, Tai-Hsiang; Hsu, Yu-Juei; Chao, Tai-Kuang; Sytwu, Huey-Kang; Uchida, Shinichi; Sasaki, Sei; Lin, Shih-Hua

    2010-12-01

    Gitelman syndrome (GS) is characterized by salt-losing hypotension, hypomagnesemia, hypokalemic metabolic alkalosis, and hypocalciuria. To better model human GS caused by a specific mutation in the thiazide-sensitive Na(+) -Cl(-) cotransporter (NCC) gene SLC12A3, we generated a nonsense Ncc Ser707X knockin mouse corresponding to human p.Ser710X (c.2135C>A), a recurrent mutation with severe phenotypes in Chinese GS patients. Compared with wild-type or heterozygous littermates, homozygous (Hom) knockin mice fully recapitulated the phenotype of human GS. The markedly reduced Ncc mRNA and virtually absent Ncc protein expression in kidneys of Hom mice was primarily due to nonsense-mediated mRNA decay (NMD) surveillance mechanisms. Expression of epithelial Na(+) channel (Enac), Ca(2+) channels (Trpv5 and Trpv6), and K(+) channels (Romk1 and maxi-K) were significantly increased. Late distal convoluted tubules (DCT) volume was increased and DCT cell ultrastructure appeared intact. High K(+) intake could not correct hypokalemia but caused a further increase in maxi-K but not Romk1 expression. Renal tissue from a patient with GS also showed the enhanced TRPV5 and ROMK1 expression in distal tubules. We suggest that the upregulation of TRPV5/6 and of ROMK1 and Maxi-K may contribute to hypocalciuria and hypokalemia in Ncc Ser707X knockin mice and human GS, respectively. © 2010 Wiley-Liss, Inc.

  10. An Interleaving Track & Hold with 7.6 ENOB @ 1.6 GS/s in 0.12 µm CMOS

    NARCIS (Netherlands)

    Louwsma, S.M.; van Tuijl, Adrianus Johannes Maria; Vertregt, Maarten; Scholtens, Peter C.S.; Nauta, Bram

    2004-01-01

    A 1.6 GS/s Track and Hold circuit that produces 16 interleaving, 100 MS/s voltage buffered output signals is presented. The achieved SFDR for a 950 MHz full scale input signal is 50 dB. Phase alignment is 0.4 ps RMS and aperture uncertainty is 1 ps RMS. The chip includes two Analog to Digital Conver

  11. Non Destructive Application of Radioactive Tracer Technique for Characterization of Industrial Grade Anion Exchange Resins Indio GS-300 and Indion-860

    Energy Technology Data Exchange (ETDEWEB)

    Singare, P. U. [Bhavan' s College, Mumbai (India)

    2014-02-15

    The paper deals with the application of radio isotopic non-destructive technique in the characterization of two industrial grade anion exchange resins Indion GS-300 and Indion-860. For the characterization of the two resins, {sup 131}I and {sup 82}Br were used as tracer isotopes to trace the kinetics of iodide and bromide ion-isotopic exchange reactions. It was observed that the values of specific reaction rate (min{sup -1}), amount of iodide ion exchanged (mmol), initial rate of iodide ion exchange (mmol/min) and log K{sub d} were calculated as 0.328, 0.577, 0.189 and 19.7 respectively for Indion GS-300 resin, which was higher than the respective values of 0.180, 0.386, 0.070 and 17.0 calculated for Indion-860 resins when measured under identical experimental conditions. Also at a constant temperature of 40.0 .deg. C, as the concentration of labeled iodide ion solution increases 0.001 M to 0.004 M, the percentage of iodide ions exchanged increases from 75.16 % to 78.36 % for Indion GS-300 resins, which was higher than the increases from 49.65 % to 52.36 % compared to that obtained for Indion-860 resins. The overall results indicate that under identical experimental conditions, Indion GS-300 resins show superior performance over Indion-860 resins.

  12. Impacts of high β-galactosidase expression on central metabolism of recombinant Pichia pastoris GS115 using glucose as sole carbon source via (13)C metabolic flux analysis.

    Science.gov (United States)

    Nie, Yongsheng; Huang, Mingzhi; Lu, Junjie; Qian, Jiangchao; Lin, Weilu; Chu, Ju; Zhuang, Yingping; Zhang, Siliang

    2014-10-10

    The yeast Pichia pastoris GS115 is a widely used microbial cell factory for the production of heterologous protein. In order to reveal the impacts of high heterologous protein expression on the central metabolism of Pichia pastoris GS115 using glucose as sole carbon source, we engineered a high β-galactosidase expression strain P. pastoris G1HL and a low expression control strain P. pastoris GHL through controlling the initiation strength of constitutive promoter pGAP. The carbon flux distributions in these two strains were quantified via (13)C metabolic flux analysis. Compared to the control strain, G1HL showed a lower growth rate, a higher flux through glycolysis pathway, a higher flux through pentose phosphate pathway, and a lower flux through by-products secretion pathway. The metabolic flux redistribution in G1HL was thought to compensate the increased redox cofactors and energy demands caused by the high protein expression. Although the fluxes through Krebs cycle in two engineered strains were almost the same, they were significantly lower than those in wild strain. The enhanced expression of β-galactosidase by glutamate supplementation demonstrated the potential of P. pastoris GS115 to catabolize more carbon through the Krebs cycle for even higher protein expression. In conclusion, our work indicates that P. pastoris GS115 can readjusts the central metabolism for higher heterologous protein expression and provides strategies for strain development or process optimization for enhancing production of heterologous protein.

  13. The PI3K inhibitor GS-1101 synergistically potentiates HDAC inhibitor-induced proliferation inhibition and apoptosis through the inactivation of PI3K and ERK pathways

    Science.gov (United States)

    Bodo, Juraj; Zhao, Xiaoxian; Sharma, Arishya; Hill, Brian T.; Portell, Craig A.; Lannutti, Brian J.; Almasan, Alexandru; Hsi, Eric D.

    2013-01-01

    Previously, we showed that inhibition of the protein kinase C β (PKCβ)/AKT pathway augments engagement of the histone deacetylase inhibitor (HDI)-induced apoptosis in lymphoma cells. In the present study, we investigated the cytotoxicity and mechanisms of cell death induced by the delta isoform-specific phosphatidylinositide 3-kinase (PI3K) inhibitor, GS-1101, in combination with the HDI, panobinostat (LBH589) and suberoylanilide hydroxamic acid (SAHA). Lymphoma cell lines and primary Non-Hodgkin Lymphoma (NHL) and chronic lymphocytic leukaemia (CLL) cells were simultaneously treated with the HDI, LBH589 and GS-1101. An interaction of the LBH589/GS-1101 combination was formally examined by using various concentrations of LBH589 and GS-1101. Combined treatment resulted in a synergistic inhibition of proliferation and showed synergistic effect on apoptotic induction in all tested cell lines and primary NHL and CLL cells. This study indicates that interference with PI3K signalling dramatically increases HDI-mediated apoptosis in malignant haematopoietic cells, possibly through both AKT-dependent or AKT- independent mechanisms. Moreover, the increase in HDI-related apoptosis observed in PI3K inhibitor-treated cells appears to be related to the disruption of the extracellular signal-regulated kinase (ERK) signalling pathway. This study provides a strong rational for testing the combination of PI3K inhibitors and HDI in the clinic. PMID:23889282

  14. Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

    Directory of Open Access Journals (Sweden)

    Häberle Johannes

    2012-07-01

    Full Text Available Abstract Glutamine synthetase (GS is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many critical roles in the human organism. A defect in GLUL, encoding for GS, leads to congenital systemic glutamine deficiency and has been described in three patients with epileptic encephalopathy. There is no established treatment for this condition. Here, we describe a therapeutic trial consisting of enteral and parenteral glutamine supplementation in a four year old patient with GS deficiency. The patient received increasing doses of glutamine up to 1020 mg/kg/day. The effect of this glutamine supplementation was monitored clinically, biochemically, and by studies of the electroencephalogram (EEG as well as by brain magnetic resonance imaging and spectroscopy. Treatment was well tolerated and clinical monitoring showed improved alertness. Concentrations of plasma glutamine normalized while levels in cerebrospinal fluid increased but remained below the lower reference range. The EEG showed clear improvement and spectroscopy revealed increasing concentrations of glutamine and glutamate in brain tissue. Concomitantly, there was no worsening of pre-existing chronic hyperammonemia. In conclusion, supplementation of glutamine is a safe therapeutic option for inherited GS deficiency since it corrects the peripheral biochemical phenotype and partially also improves the central biochemical phenotype. There was some clinical improvement but the patient had a long standing severe encephalopathy. Earlier supplementation with glutamine might have prevented some of the neuronal damage.

  15. Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.

    Science.gov (United States)

    Häberle, Johannes; Shahbeck, Noora; Ibrahim, Khalid; Schmitt, Bernhard; Scheer, Ianina; O'Gorman, Ruth; Chaudhry, Farrukh A; Ben-Omran, Tawfeg

    2012-07-25

    Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many critical roles in the human organism. A defect in GLUL, encoding for GS, leads to congenital systemic glutamine deficiency and has been described in three patients with epileptic encephalopathy. There is no established treatment for this condition.Here, we describe a therapeutic trial consisting of enteral and parenteral glutamine supplementation in a four year old patient with GS deficiency. The patient received increasing doses of glutamine up to 1020 mg/kg/day. The effect of this glutamine supplementation was monitored clinically, biochemically, and by studies of the electroencephalogram (EEG) as well as by brain magnetic resonance imaging and spectroscopy.Treatment was well tolerated and clinical monitoring showed improved alertness. Concentrations of plasma glutamine normalized while levels in cerebrospinal fluid increased but remained below the lower reference range. The EEG showed clear improvement and spectroscopy revealed increasing concentrations of glutamine and glutamate in brain tissue. Concomitantly, there was no worsening of pre-existing chronic hyperammonemia.In conclusion, supplementation of glutamine is a safe therapeutic option for inherited GS deficiency since it corrects the peripheral biochemical phenotype and partially also improves the central biochemical phenotype. There was some clinical improvement but the patient had a long standing severe encephalopathy. Earlier supplementation with glutamine might have prevented some of the neuronal damage.

  16. Production of a monoclonal antibody specific for high molecular weight glutenin subunits (HMW-GS) in wheat and its antigenic determinant

    Institute of Scientific and Technical Information of China (English)

    WANG Hanqian; ZHANG Xueyong; WANG Hongmei; PANG Binshuang

    2005-01-01

    Wheat high molecular weight glutenin subunits (HMW-GS) 1Bx14 and 1By15 isolated by preparative SDS-PAGE are used as antigen to immunize BALB/c mice. Subcutaneous inoculation of the antigen is performed. The intra-peritoneal injection is completed 3 days before fusion with myeloma cell (SP2/0) via PEG-1500. The fusion cells are selected by indirect enzyme-linked immuno-sorbent assay (ELISA). Positive hybrid cells are further verified three times by limit dilution of the culture cells. A hybridoma cell line is successfully obtained. The monoclonal antibody belongs to IgG1 subclass. In immunoblotting, the antibody binds to all HMW-GS of T.aestivum cultivars, but does not bind to other storage proteins in seeds of wheat. This result is consisting with the high homology in amino acid sequences among the HMW glutenin subunits in wheat. The antibody also binds to HMW-GS storage proteins in Aegilops squarrosa and T. durum (durum wheat). Furthermore, it also binds to HMW storage proteins in Secale cereale (rye),Hordeum vulgare (barley). However, it never binds seed storage proteins in other cereals such as maize, oat, rice, foxtail millet, sorghum etc. The antigen determinant recognized by the antibody has been located within hexapeptide [PGQGQQ] or / and nonapeptide [GYYPTSPQQ] in the central repetitive region of HMW-GS.

  17. Molecular characterization of LMW-GS genes from a somatic hybrid introgression line Ⅱ-12 between Triticum aestivum and Agropyron elongatum in relation to quick evolution

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    In order to exploit the evolution and find novel low-molecular-weight glutenin subunit(LMW-GS)for improvement of common wheat quality,thirteen variants from a somatic hybrid introgression line Ⅱ-12 between Triticum aestivum cv.Jinan 177(JN177)and Agropyron elongatum were characterized via genomic PCR.Four clones were pseudogenes because they contained an internal stop codon.The remaining nine variants contained intact open reading frames(ORFs).Sequence alignment indicates that the proteins deduced from the nine ORFs have similar primary structure with LMW-GS cloned from its parents previously.However,they have some unique modifications in the structures.For example,EU292737 contains not only an extra Cys residue in the C-terminal domain but also a long repetitive domain.Both EU159511 and EU292738 start their first Cys residue in the N-terminal repetitive domain,but not in the N-conserved domain traditionally.These structural alterations may have positive contributions to wheat flour quality.The results of phylogeny showed that most LMW-GS variances from Ⅱ-12 were homologous to those from parent JN 177 and other wheat lines.The reason for quick evolution of LMW-GS in Ⅱ-12 was discussed.

  18. Expression Analysis of HMW-GS 1Bx14 and 1By15 in Wheat Varieties and Transgenic Research of 1By15 Gene

    Institute of Scientific and Technical Information of China (English)

    XU Tao; ZHANG Xue-yong; DONG Yu-shen

    2006-01-01

    High-molecular-weight glutenin subunits (HMW-GSs), one class of seed storage proteins in wheat, play an important role in determining bread-making quality of flour. More and more proves support that HMW-GS-1Bx14 and -1Bx15 subunits are strongly positively associated with good bread-making and excellent noodle-making quality. The two subunits are encoded by two genes, Glu-1Bx14 and Glu-1Bx15, which are tightly linked and located on the 1BL. Protein assay by SDS-PAGE indicated that the expression of Glu-1Bx14 gene was always much stronger than that of Glu-1By15 in the same variety. But, variation of expression level for Glu-1By15 gene existed among varieties, such as in Xiaoyan 54,Xiaoyan 6, Yanzhan 1 and Shanyou 225. We also investigated the transcription difference of Glu-1By14 and Glu-1By15 genes in Xiaoyan 54 and Shanyou 225 by semi-quantitative RT-PCR method. The Glu-1By14 always transcripts much more than the Glu-1By15. This was basically consistent with the translation difference between the two genes. Promoters of 1Bx14, 1By15, 1By8, 1Dx2 and 1Dy12 were cloned from Xiaoyan 54, Chinese Spring and Aegilops tauschii. Sequence analysis indicated that the HMW-GS genes had high homology at their promoter regions. However, significant difference existed between sequence of 1Bx14 promoter and those of other HMW-GS genes. The transient expression experiment showed that the promoter of 1By15 has lower activity than that of 1Bx14, which was consistent with their transcription level of the two genes in varieties. In addition, transient expression of the gus driven by the promoter (P2) of HMW-GS 1Dx2 gene was higher than by other HMW-GS promoters. Therefore, we constructed 1By15 gene expression vector driven by the 1Dx2 promoter, and transformed the 1By15 gene into wheat commercial variety, Jimai 20 by pollen tube method. Of 45 independent transgenic lines identified by PCR, 3 were confirmed to contain the HMW-GS 1By15 gene via Southern hybridization. The delivered 1By15

  19. Analysis and Extracting Method for DVB-S2 GS%DVB-S2 GS流的分析与提取方法

    Institute of Scientific and Technical Information of China (English)

    邵永庆; 黄焱; 王翔宇

    2013-01-01

    随着卫星技术与互联网技术的进一步融合,通过数字广播电视(DVB-S)信道传输的业务种类大幅增加。第一代系统难以应付快速增长的IP数据业务,为此,第二代数字卫星广播标准(DVB-S2)制定一种新的码流:一般传输流(GS)。针对现有卫星设备缺乏对GS流处理的现状,根据基带帧自身的格式、GS流在基带帧中的编排方式及GS流专用封装一般传输流封装(GSE)的特点,提出一种DVB-S2 GS流分析与提取的方法,对基带帧的封装方式及GS流的封装GSE进行分析,并用实际数据进行测试。实验结果证明,该方法能够快速准确地还原出应用层中的IP数据,实现对GS流的处理。%Along with the combination of satellite and Internet technology, business lines transmitted by satellite Digital Video Broadcasting-Satellite(DVB-S) channel increases rapidly. The first generation system can not meet the need of the fast increasing IP business, hence, an entirely new Generic Stream(GS) is introduced in DVB-S2 standard. Aiming at the problem that the existing satellite terminal equipment can not process GS very well, this paper presents a DVB-S2 GS extraction and analysis method according to the form of generic stream, the arrangement method of GS in base-band frame and feature of Generic Stream Encapsulation(GSE). It analyses the encapsulation mode of base-band frame and GSE of GS, and tests some actual data. Experimental result shows the method can restore IP data in application layer rapidly and accurately, and can realize the processing of GS.

  20. Syndromic autism: II. Genetic syndromes associated with autism

    National Research Council Canada - National Science Library

    Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M

    2005-01-01

    ..., tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert...

  1. Edwards' syndrome.

    Science.gov (United States)

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  2. Dravet Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  3. Paraneoplastic Syndromes

    Science.gov (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  4. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  5. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  6. Lynch Syndrome

    Science.gov (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. http://www.nature.com/nrc/journal/vaop/ncurrent/ ...

  7. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  8. Meckel syndrome

    National Research Council Canada - National Science Library

    Salonen, R; Paavola, P

    1998-01-01

    Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases...

  9. Angelman Syndrome

    Science.gov (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  10. Apert Syndrome.

    Science.gov (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  11. Attenuation of Quorum Sensing Regulated Virulence of Pectobacterium carotovorum subsp. carotovorum through an AHL Lactonase Produced by Lysinibacillus sp. Gs50

    Science.gov (United States)

    Garge, Sneha S.; Nerurkar, Anuradha S.

    2016-01-01

    Quorum sensing (QS) is a mechanism in which Gram negative bacterial pathogens sense their population density through acyl homoserine lactones (AHLs) and regulate the expression of virulence factors. Enzymatic degradation of AHLs by lactonases, known as quorum quenching (QQ), is thus a potential strategy for attenuating QS regulated bacterial infections. We characterised the QQ activity of soil isolate Lysinibacillus sp. Gs50 and explored its potential for controlling bacterial soft rot of crop plants. Lysinibacillus sp. Gs50 inactivated AHL, which could be restored upon acidification, suggested that inactivation was due to the lactone ring hydrolysis of AHL. Heterologous expression of cloned gene for putative hydrolase (792 bp) designated adeH from Lysinibacillus sp. Gs50 produced a ~29 kDa protein which degraded AHLs of varying chain length. Mass spectrometry analysis of AdeH enzymatic reaction product revealed that AdeH hydrolyses the lactone ring of AHL and hence is an AHL lactonase. Multiple sequence alignment of the amino acid sequence of AdeH showed that it belongs to the metallo- β- lactamase superfamily, has a conserved “HXHXDH” motif typical of AHL lactonases. KM for AdeH for C6HSL was found to be 3.089 μM and the specific activity was 0.8 picomol min-1μg-1. AdeH has not so far been reported from any Lysinibacillus sp. and has less than 40% identity with known AHL lactonases. Finally we found that Lysinibacillus sp. Gs50 can degrade AHL produced by Pectobacterium carotovorum subsp. carotovorum (Pcc), a common cause of soft rot. This QQ activity causes a decrease in production of plant cell wall degrading enzymes of Pcc and attenuates symptoms of soft rot in experimental infection of potato, carrot and cucumber. Our results demonstrate the potential of Lysinibacillus sp. Gs50 as a preventive and curative biocontrol agent. PMID:27911925

  12. Evaluation of GS Junior and MiSeq next-generation sequencing technologies as an alternative to Trugene population sequencing in the clinical HIV laboratory.

    Science.gov (United States)

    Ram, Daniela; Leshkowitz, Dena; Gonzalez, Dimitri; Forer, Relly; Levy, Itzchak; Chowers, Michal; Lorber, Margalit; Hindiyeh, Musa; Mendelson, Ella; Mor, Orna

    2015-02-01

    Population HIV-1 sequencing is currently the method of choice for the identification and follow-up of HIV-1 antiretroviral drug resistance. It has limited sensitivity and results in a consensus sequence showing the most prevalent nucleotide per position. Moreover concomitant sequencing and interpretation of the results for several samples together is laborious and time consuming. In this study, the practical use of GS Junior and MiSeq bench-top next generation sequencing (NGS) platforms as an alternative to Trugene Sanger-based population sequencing in the clinical HIV laboratory was assessed. DeepChek(®)-HIV TherapyEdge software was used for processing all the protease and reverse transcriptase sequences and for resistance interpretation. Plasma samples from nine HIV-1 carriers, representing the major HIV-1 subtypes in Israel, were compared. The total number of amino acid substitutions identified in the nine samples by GS Junior (232 substitutions) and MiSeq (243 substitutions) was similar and higher than Trugene (181 substitutions), emphasizing the advantage of deep sequencing on population sequencing. More than 80% of the identified substitutions were identical between the GS Junior and MiSeq platforms, most of which (184 of 199) at similar frequency. Low abundance substitutions accounted for 20.9% of the MiSeq and 21.9% of the GS Junior output, the majority of which were not detected by Trugene. More drug resistance mutations were identified by both the NGS platforms, primarily, but not only, at low abundance. In conclusion, in combination with DeepChek, both GS Junior and MiSeq were found to be more sensitive than Trugene and adequate for HIV-1 resistance analysis in the clinical HIV laboratory.

  13. Learning about Down Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  14. Gardner’s syndrome presenting as duodenal carcinoma in a young male

    Directory of Open Access Journals (Sweden)

    Sarma YS

    2015-10-01

    Full Text Available Gardners syndrome (GS is a variant of familial adenomatous polyposis (FAP and presents with both colonic and extra colonic manifestations. It is an autosomal dominant disorder and results from mutations in adenomatous polyposis coli (APC gene. Patients with GS if not treated early will invariably develop colonic cancers at a much younger age than those with sporadic colonic carcinoma. These patients also develop other malignant tumours like duodenal cancers, gastric cancer, hepatoblastoma, papillary carcinoma of the thyroid and multifocal cholangiocarcinomas. With early diagnosis and treatment of colonic polyposis, adenocarcinoma of the duodenum has become the leading cause of death in FAP patients. The mean age at which duodenal carcinoma is diagnosed in FAP is 45-52 years. We report the rare occurrence of duodenal carcinoma as the presenting feature of Gardner’s syndrome in a young 25-year-old male with no obvious malignant changes in the colonic adenomas.

  15. NuSTAR detection of 4s Hard X-ray Lags from the Accreting Pulsar GS 0834-430

    Directory of Open Access Journals (Sweden)

    Bachetti Matteo

    2014-01-01

    Full Text Available The NuSTAR hard X-ray telescope observed the transient Be/X-ray binary GS 0834–430 during its 2012 outburst. The source is detected between 3 – 79 keV with high statistical significance, and we were able to perform very accurate spectral and timing analysis. The phase-averaged spectrum is consistent with that observed in many other magnetized accreting pulsars. We fail to detect cyclotron resonance scattering features in either phase-averaged nor phase-resolved spectra that would allow us to constrain the pulsar’s magnetic field. We detect a pulse period of ~ 12:29 s in all energy bands. The pulse profile can be modeled with a double Gaussian and shows a strong and smooth hard lag of up to 0.3 cycles in phase, or about 4s between the pulse at ~ 3 and ≳ 30 keV. This is the first report of such a strong lag in high-mass X-ray binary (HMXB pulsars. Previously reported lags have been significantly smaller in phase and restricted to low-energies (E<10 keV. We investigate the possible mechanisms that might produce such lags. We find the most likely explanation for this effect to be a complex beam geometry.

  16. An efficient procedure for plant organellar genome assembly, based on whole genome data from the 454 GS FLX sequencing platform

    Directory of Open Access Journals (Sweden)

    Zhang Tongwu

    2011-11-01

    Full Text Available Abstract Motivation Complete organellar genome sequences (chloroplasts and mitochondria provide valuable resources and information for studying plant molecular ecology and evolution. As high-throughput sequencing technology advances, it becomes the norm that a shotgun approach is used to obtain complete genome sequences. Therefore, to assemble organellar sequences from the whole genome, shotgun reads are inevitable. However, associated techniques are often cumbersome, time-consuming, and difficult, because true organellar DNA is difficult to separate efficiently from nuclear copies, which have been transferred to the nucleus through the course of evolution. Results We report a new, rapid procedure for plant chloroplast and mitochondrial genome sequencing and assembly using the Roche/454 GS FLX platform. Plant cells can contain multiple copies of the organellar genomes, and there is a significant correlation between the depth of sequence reads in contigs and the number of copies of the genome. Without isolating organellar DNA from the mixture of nuclear and organellar DNA for sequencing, we retrospectively extracted assembled contigs of either chloroplast or mitochondrial sequences from the whole genome shotgun data. Moreover, the contig connection graph property of Newbler (a platform-specific sequence assembler ensures an efficient final assembly. Using this procedure, we assembled both chloroplast and mitochondrial genomes of a resurrection plant, Boea hygrometrica, with high fidelity. We also present information and a minimal sequence dataset as a reference for the assembly of other plant organellar genomes.

  17. Nano-visualization of oriented-immobilized IgGs on immunosensors by high-speed atomic force microscopy

    Science.gov (United States)

    Iijima, Masumi; Somiya, Masaharu; Yoshimoto, Nobuo; Niimi, Tomoaki; Kuroda, Shun'ichi

    2012-11-01

    Oriented immobilization of sensing molecules on solid phases is an important issue in biosensing. In case of immunosensors, it is essential to scrutinize not only the direction and shape of immunoglobulin G (IgG) in solution but also the real-time movement of IgGs, which cannot be achieved by conventional techniques. Recently, we developed bio-nanocapsules (BNCs) displaying a tandem form of the IgG Fc-binding Z domain derived from Staphylococcus aureus protein A (ZZ-BNC) to enhance the sensitivity and antigen-binding capacity of IgG via oriented-immobilization. Here, we used high-speed atomic force microscopy (HS-AFM) to reveal the fine surface structure of ZZ-BNC and observe the movement of mouse IgG3 molecules tethered onto ZZ-BNC in solution. ZZ-BNC was shown to act as a scaffold for oriented immobilization of IgG, enabling its Fv regions to undergo rotational Brownian motion. Thus, HS-AFM could decipher real-time movement of sensing molecules on biosensors at the single molecule level.

  18. The Gs-linked receptor GPR3 inhibits the proliferation of cerebellar granule cells during postnatal development.

    Directory of Open Access Journals (Sweden)

    Shigeru Tanaka

    Full Text Available BACKGROUND: During postnatal murine and rodent cerebellar development, cerebellar granule precursors (CGP gradually stop proliferating as they differentiate after migration to the internal granule layer (IGL. Molecular events that govern this program remain to be fully elucidated. GPR3 belongs to a family of Gs-linked receptors that activate cyclic AMP and are abundantly expressed in the adult brain. METHODOLOGY/PRINCIPAL FINDINGS: To investigate the role of this orphan receptor in CGP differentiation, we determined that exogenous GPR3 expression in rat cerebellar granule neurons partially antagonized the proliferative effect of Sonic hedgehog (Shh, while endogenous GPR3 inhibition by siRNA stimulated Shh-induced CGP proliferation. In addition, exogenous GPR3 expression in CGPs correlated with increased p27/kip expression, while GPR3 knock-down led to a decrease in p27/kip expression. In wild-type mice, GPR3 expression increased postnatally and its expression was concentrated in the internal granular layer (IGL. In GPR3 -/- mice, the IGL was widened with increased proliferation of CGPs, as measured by bromodeoxyuridine incorporation. Cell cycle kinetics of GPR3-transfected medulloblastoma cells revealed a G0/G1 block, consistent with cell cycle exit. CONCLUSIONS/SIGNIFICANCE: These results thus indicate that GPR3 is a novel antiproliferative mediator of CGPs in the postnatal development of murine cerebellum.

  19. NuSTAR Observations of the Black Hole GS 1354-645: Evidence of Rapid Black Hole Spin

    CERN Document Server

    El-Batal, A M; Reynolds, M T; Boggs, S E; Chistensen, F E; Craig, W W; Fuerst, F; Hailey, C J; Harrison, F A; Stern, D K; Tomsick, J; Walton, D J; Zhang, W W

    2016-01-01

    We present the results of a NuSTAR study of the dynamically confirmed stellar-mass black hole GS 1354-645. The source was observed during its 2015 "hard" state outburst; we concentrate on spectra from two relatively bright phases. In the higher-flux observation, the broadband NuSTAR spectra reveal a clear, strong disk reflection spectrum, blurred by a degree that requires a black hole spin of a = cJ/GM^2 > 0.98 (1 sigma statistical limits only). The fits also require a high inclination: theta = 75(2) degrees. Strong "dips" are sometimes observed in the X-ray light curves of sources viewed at such an angle; these are absent, perhaps indicating that dips correspond to flared disk structures that only manifest at higher accretion rates. In the lower-flux observation, there is evidence of radial truncation of the thin accretion disk. We discuss these results in the context of spin in stellar-mass black holes, and inner accretion flow geometries at moderate accretion rates.

  20. Evaluation of root water uptake in the ISBA-A-gs land surface model using agricultural yield statistics over France

    Directory of Open Access Journals (Sweden)

    N. Canal

    2014-05-01

    Full Text Available The interannual variability of cereal grain yield and permanent grassland dry matter yield is simulated over French sites by the Interactions between Soil, Biosphere and Atmosphere, CO2-reactive (ISBA-A-gs generic Land Surface Model (LSM. The two soil profile schemes available in the model are used to simulate the above-ground biomass (Bag of cereals and grasslands: a 2-layer force-restore (FR-2L bulk reservoir model and a multi-layer diffusion (DIF model. The DIF model is implemented with or without deep soil layers below the root-zone. The evaluation of the various root water uptake models is achieved by using the French agricultural statistics of Agreste over the 1994–2010 period at 45 cropland and 48 grassland sites, for a range of rooting depths. The number of sites where the simulated annual maximum Bag presents a significant correlation with the yield observations is used as a metric to benchmark the root water uptake models. Significant correlations (p value < 0.01 are found for up to 29% of the cereal sites and 77% of the grassland sites. It is found that modelling additional subroot zone base flow soil layers does not improve (and may even degrade the representation of the interannual variability of the vegetation above-ground biomass. These results are particularly robust for grasslands as calibrated simulations are able to represent the extreme 2003 and 2007 years corresponding to unfavourable and favourable fodder production, respectively.

  1. NuSTAR Observations of the Black Hole GS 1354-645: Evidence of Rapid Black Hole Spin

    Science.gov (United States)

    El-Batal, A. M.; Miller, J. M.; Reynolds, M. T.; Boggs, S. E.; Chistensen, F. E.; Craig, W. W.; Fuerst, F.; Hailey, C. J.; Harrison, F. A.; Stern, D. K.; Tomsick, J.; Walton, D. J.; Zhang, W. W.

    2016-07-01

    We present the results of a NuSTAR study of the dynamically confirmed stellar-mass black hole GS 1354-645. The source was observed during its 2015 “hard” state outburst; we concentrate on spectra from two relatively bright phases. In the higher-flux observation, the broadband NuSTAR spectra reveal a clear, strong disk reflection spectrum, blurred by a degree that requires a black hole spin of a={cJ}/{{GM}}2≥slant 0.98 (1σ statistical limits only). The fits also require a high inclination: θ ≃ 75{(2)}\\circ . Strong “dips” are sometimes observed in the X-ray light curves of sources viewed at such an angle; these are absent, perhaps indicating that dips correspond to flared disk structures that only manifest at higher accretion rates. In the lower flux observation, there is evidence of radial truncation of the thin accretion disk. We discuss these results in the context of spin in stellar-mass black holes, and inner accretion flow geometries at moderate accretion rates.

  2. Design, fabrication, commissioning, and testing of a 250 g/s, 2-K helium cold compressor system

    Energy Technology Data Exchange (ETDEWEB)

    V. Ganni; D. M. Arenius; B. S. Bevins; W. C. Chronis; J. D. Creel; J. D. Wilson Jr.

    2002-05-10

    In June 1999 the Thomas Jefferson National Accelerator Facility (TJNAF) Cryogenic Systems Group had completed the design, fabrication, and commissioning of a cold compressor system capable of pumping 250 g/s of 2-K helium vapor to a pressure above 1 bar. The 2-K cold box consists of five stages of centrifugal variable speed compressors with LN2 cooled drive motors and magnetic bearings, a plate fin heat exchanger, and an LN2 shield system. The new 2-K cold box (referred to as the SCN) was built as a redundant system to an existing four stage cold compressor SCM cold box that was commissioned in May 1994. The SCN has been in continuous service supporting the facility experiments since commissioning. This system has achieved a significant improvement in the total 2-K refrigeration system capacity and stability and has substantially increased the operating envelope both in cold compressor flow and operating pressure range. This paper describes the cold box configuration and the experience s in the design, fabrication, commissioning and performance evaluation. The capacity of the system for various operating pressures (0.040 to 0.025 bar at the load corresponding to a total compressor pressure ratio of 28 to 54) is presented. An effort is made to characterize the components and their operating data over the tested range. This includes the return side pressure drop in the distribution system, the heat exchanger, and the cold compressor characteristics. The system design parameters and their effects on performance are outlined.

  3. Near-complete genome sequencing of swine vesicular disease virus using the Roche GS FLX sequencing platform.

    Directory of Open Access Journals (Sweden)

    Sandra C Abel Nielsen

    Full Text Available Swine vesicular disease virus (SVDV is an enterovirus that is both genetically and antigenically closely related to human coxsackievirus B5 within the Picornaviridae family. SVDV is the causative agent of a highly contagious (though rarely fatal vesicular disease in pigs. We report a rapid method that is suitable for sequencing the complete protein-encoding sequences of SVDV isolates in which the RNA is relatively intact. The approach couples a single PCR amplification reaction, using only a single PCR primer set to amplify the near-complete SVDV genome, with deep-sequencing using a small fraction of the capacity of a Roche GS FLX sequencing platform. Sequences were initially verified through one of two criteria; either a match between a de novo assembly and a reference mapping, or a match between all of five different reference mappings performed against a fixed set of starting reference genomes with significant genetic distances within the same species of viruses. All reference mappings used an iterative method to avoid bias. Further verification was achieved through phylogenetic analysis against published SVDV genomes and additional Enterovirus B sequences. This approach allows high confidence in the obtained consensus sequences, as well as provides sufficiently high and evenly dispersed sequence coverage to allow future studies of intra-host variation.

  4. The distribution of deep source rocks in the GS Sag: joint MT-gravity modeling and constrained inversion

    Science.gov (United States)

    Shi, Yan-Ling; Hu, Zu-Zhi; Huang, Wen-Hui; Wei, Qiang; Zhang, Sheng; Meng, Cui-Xian; Ji, Lian-Sheng

    2016-09-01

    The coal-bearing strata of the deep Upper Paleozoic in the GS Sag have high hydrocarbon potential. Because of the absence of seismic data, we use electromagnetic (MT) and gravity data jointly to delineate the distribution of deep targets based on well logging and geological data. First, a preliminary geological model is established by using three-dimensional (3D) MT inversion results. Second, using the formation density and gravity anomalies, the preliminary geological model is modified by interactive inversion of the gravity data. Then, we conduct MT-constrained inversion based on the modified model to obtain an optimal geological model until the deviations at all stations are minimized. Finally, the geological model and a seismic profile in the middle of the sag is analysed. We determine that the deep reflections of the seismic profile correspond to the Upper Paleozoic that reaches thickness up to 800 m. The processing of field data suggests that the joint MT-gravity modeling and constrained inversion can reduce the multiple solutions for single geophysical data and thus improve the recognition of deep formations. The MT-constrained inversion is consistent with the geological features in the seismic section. This suggests that the joint MT and gravity modeling and constrained inversion can be used to delineate deep targets in similar basins.

  5. SWIFT view of the 2015 outburst of GS 2023+338 (V404 Cyg): complex `spectro-temporal' evolution

    CERN Document Server

    Radhika, D; Agrawal, V K; Mandal, S

    2016-01-01

    Aims : We study the `spectro-temporal' characteristics of the source GS 2023+338 (V404 Cyg) during the initial phase of its June 2015 outburst, over the energy range of 0.5 - 150 keV. This is the first detailed study of the characteristics of this source based on SWIFT observations, being reported. We study the nature of soft as well as the hard emission of the energy spectra, and the temporal evolution of the source. We attempt to understand these characteristics with respect to the previous outburst of this source, and other Galactic black hole sources. Conclusions : This source is observed to exhibit spectral state transitions occupying the hard, intermediate and soft spectral states. The hardness intensity diagram do not show a `q-shape' which is usually observed in black hole transients. Dramatic changes in the `spectro-temporal' properties are also exhibited before the ejection of a radio jet suggesting it to be associated with coronal ejection. It seems that the ejected matter is obscuring the Kepleria...

  6. Sieviešu vara Osmaņu impērijā 17.-18.gs.

    OpenAIRE

    Krieķis, Jānis

    2017-01-01

    Bakalaura darba tēma ir “Sieviešu vara Osmaņu impērijā 17.-18.gs.” Darba uzdevums ir aplūkot vēsturisko situāciju un procesus Osmaņu impērijā, kas gala rezultātā noveda pie tā dēvētā “Sieviešu sultanāta”. Tas bija periods Osmaņu impērijas vēsturē, kad valsts politiskajos procesos ievērojamu lomu spēlēja tieši sievietes, neskatoties uz šķietami necilu lomu tradicionālajā islāma izpratnē par sievietēm. Darbs sastāv no trim daļām. Pirmajā daļā tiek apskatīts tradicionālais varas modelis un priek...

  7. GS-9219/VDC-1101 - a prodrug of the acyclic nucleotide PMEG has antitumor activity inspontaneous canine multiple myeloma

    Science.gov (United States)

    2014-01-01

    Background Multiple myeloma (MM) is an important human and canine cancer for which novel therapies remain necessary. VDC-1101 (formerly GS-9219), a novel double prodrug of the anti-proliferative nucleotide analog 9-(2-phosphonylmethoxyethyl) guanine (PMEG), possesses potent cytotoxic activity in vitro in human lymphoblasts and leukemia cell lines and in vivo in spontaneous canine lymphoma. Given the similarity in lineage between lymphoma and MM, we hypothesized that VDC-1101 would be active against MM. Results We evaluated the in vitro antiproliferative effects of VDC-1101 against 3 human MM cell lines, and we performed a phase-II clinical trial in 14 dogs with spontaneous MM. Each dog was treated with a maximum of 6 doses of VDC-1101 monotherapy over 10–15 weeks. Dose-dependent antiproliferative activity was observed in all evaluated cell lines. Major antitumor responses (reduction of serum paraprotein and resolution of hypercalcemia, peripheral cytopenias and bone marrow plasmacytosis) were observed in 9 of 11 evaluable dogs for a median of 172 days, including a durable stringent complete response (>1047 days) in a dog with melphalan-refractory disease. 2 dogs were euthanized due to presumed pulmonary fibrosis; there were no other dose-limiting toxicities encountered. Conclusions In conclusion, VDC-1101 has significant anti-tumor activity at well-tolerated doses in spontaneous canine MM. PMID:24460928

  8. A "high-hard" outburst of the black hole X-ray binary GS 1354-64

    CERN Document Server

    Koljonen, K I I; Corral-Santana, J M; Padilla, M Armas; Muñoz-Darias, T; Lewis, F; Coriat, M; Bauer, F E

    2016-01-01

    We study in detail the evolution of the 2015 outburst of GS 1354-64 (BW Cir) at optical, UV and X-ray wavelengths using Faulkes Telescope South, SMARTS and Swift. The outburst was found to stay in the hard X-ray state, albeit being anomalously luminous with a peak luminosity of L$_{X} >$ 0.15 L$_{Edd}$, which could be the most luminous hard state observed in a black hole X-ray binary. We found that the optical/UV emission is tightly correlated with the X-ray emission, consistent with accretion disc irradiation and/or a jet producing the optical emission. The X-ray spectra can be fitted well with a Comptonisation model, and show softening towards the end of the outburst. In addition, we detect a QPO in the X-ray lightcurves with increasing centroid frequency during the peak and decay periods of the outburst. The long-term optical lightcurves during quiescence show a statistically significant, slow rise of the source brightness over the 7 years prior to the 2015 outburst. This behaviour as well as the outburst ...

  9. Brain-Machine Interface to Control a Prosthetic Arm with Monkey ECoGs during Periodic Movements

    Directory of Open Access Journals (Sweden)

    Soichiro eMorishita

    2014-12-01

    Full Text Available Brain Machine Interfaces (BMIs are promising technologies to rehabilitate the function of upper limbs in severely paralyzed patients. We succeeded in developing a BMI prosthetic arm for a monkey implanted with electrocorticogram (ECoG electrodes and trained in a reaching task. It had stability in preventing the misclassification of ECoG patterns. However, the latency was about 200 ms as a trade-off for the stability. To improve the response of this BMI prosthetic arm, the generation of a trigger event by decoding muscle activity was adopted. It was performed to predict integrated electromyograms (iEMGs from the ECoGs. Experiments were conducted to verify the availability of this method, and the results confirmed that the proposed method was superior to the conventional one. In addition, a performance test of the proposed method with actually achieved iEMGs instead of predicted iEMGs was performed, and we found that the motor intention is finely expressed through estimated muscle activity from brain activity rather than actual muscle activity.

  10. Velocardiofacial Syndrome

    Science.gov (United States)

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  11. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M

    2008-04-01

    Full Text Available Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  12. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  13. Wallenberg's Syndrome

    Science.gov (United States)

    ... Information Page You are here Home » Disorders » All Disorders Wallenberg's Syndrome Information Page Wallenberg's Syndrome Information Page What ... better ways to prevent, treat, and ultimately cure disorders such as Wallenberg’s syndrome. Information from the National Library of Medicine’s ...

  14. Between Celiac Disease and Irritable Bowel Syndrome: The “No Man’s Land” of Gluten Sensitivity

    Science.gov (United States)

    Verdu, Elena F.; Armstrong, David; Murray, Joseph A.

    2012-01-01

    The repertoire of gastrointestinal (GI) symptoms is finite; however, the etiologies and mechanisms underlying symptom generation and perception are diverse and, in many cases, unknown. This review examines the clinical and experimental evidence exploring the putative relationship between gluten sensitivity (GS) and the generation of GI symptoms. It explores the hypothesis that, in a proportion of patients, GS causes functional bowel disorder (FBD)-like symptoms. We propose a model for investigating and understanding the induction of GI symptoms and dysfunction by gluten in FBD and organic disease. We hypothesize that, even in the absence of fully developed celiac disease, gluten can induce symptoms similar to FBD. We discuss the hypothesis that GS and post-infectious irritable bowel syndrome (IBS) provide two triggers that can explain at least part of the spectrum that constitutes IBS, further advancing an understanding of the role of mucosal responses to luminal factors in FBDs. We propose that the animal model of GS in human leukocyte antigen (HLA)-DQ8 mice allows investigation of mucosal pathophysiological changes that occur before the onset of full-blown inflammation in a GS host. A better understanding of how gluten can cause symptoms in sensitive individuals will illuminate the interaction between host genotype, diet, and intestinal microbiota in generating one of the most common GI conditions. PMID:19455131

  15. Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome.

    Science.gov (United States)

    Turcic, Kyle; Tobar-Rubin, Raquel; Janevska, Daniela; Carroll, Julie; Din, Eraj; Alvarez, Rebecca; Haick, Jennifer; Pals-Rylaarsdam, Robin

    2014-06-01

    Gain-of-function mutations in heterotrimeric G-protein α subunits are associated with a variety of human diseases. McCune-Albright syndrome (MAS) is caused by mutations in GNAS, the gene encoding Gs. Alterations at Arg201 significantly reduce the GTPase activity of the protein, rendering it constitutively active. In this study, we have constructed a library of random mutations in a constitutively active yeast GPA1 gene carrying a mutation homologous to the McCune-Albright allele (Arg297His). Intragenic suppressors found at sites with homology to the human Gs protein were tested for their ability to suppress the constitutive activity of an Arg201His mutation in Gs. Three intragenic suppressors, at Phe142, Arg231, and Leu266, were able to suppress elevated basal cAMP responses caused by Arg201His when expressed in HEK293 cells. A range of amino acid substitutions was introduced at each of these sites to investigate the chemical requirements for intragenic suppression. The ability of Gs proteins carrying the suppressor mutations alone to mediate receptor-induced cAMP production was measured. These results offer potential sites on Gs that could serve as drug targets for MAS therapies.

  16. Refeeding syndrome.

    Science.gov (United States)

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  17. [Metabolic syndrome].

    Science.gov (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi

    2009-02-01

    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  18. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  19. [Risk stratified in the National Registry of Acute Coronary Syndromes at the IMSS].

    Science.gov (United States)

    Borrayo-Sánchez, Gabriela; Madrid-Miller, Alejandra; Arriaga-Nava, Roberto; Ramos-Corrales, Marco Antonio; García-Aguilar, Jorge; Almeida-Gutiérrez, Eduardo

    2010-01-01

    to identify prognostic factors in the National Registry of Acute Coronary Syndromes. patients in medical care units with acute ischemic coronary syndrome (AICS) according to the criteria of the American Heart Association/American College of Cardiology/European Society of Cardiology, considering the GRACE score (GS) were studied. there were 2389 patients, 28.9 % women and 71.1 % men, mean age 63 ± 11.7 years; with AICS with ST-segment elevation (69.11 %) and 30.89 % with AICS without ST elevation. The average of GS was 168. A GS > 150 points in patients with AICS without ST elevation was associated with recurrent ischemia or angina (RR = 1.4, p = 0.05), left ventricular failure (RR = 3.1, p < 0.0001), stroke (RR = 2.9, p = 0.004) and arrhythmias (RR = 2.7, p < 0.0001). The patients with AICS with ST-segment elevation were associated with death (RR = 1.6, p = 0.01), reinfarction (RR = 1.7, p = 0.001), recurrent ischemia (RR = 1.2, p = 0.04), left ventricular failure (RR = 3.4, p < 0.001), stroke (RR = 3.9, p < 0.001) and arrhythmias (RR = 2.3, p < 0.001). Fibrinolytic therapy was used in 40.2 %. There was a negative correlation between GS and fibrinolytic therapy (r -0.04, p = 0.04). the AICS with ST-segment elevation is more frequent and have a high GS.

  20. Characterization of the Streptococcus mutans GS-5 fruA gene encoding exo-beta-D-fructosidase.

    Science.gov (United States)

    Burne, R A; Penders, J E

    1992-11-01

    The complete nucleotide sequence (5,010 bp) of the fructanase gene (fruA) and flanking regions of the chromosome of Streptococcus mutans GS-5 was determined. The fruA gene appears to be the sole transcript arising from a proximal promoter. The presumed precursor of the secreted FruA protein consists of 1,423 amino acids, and it has an M(r) of 158,656 and a pI of 4.82. The N terminus of FruA has characteristics in common with signal peptides of gram-positive organisms. The C terminus consists of a serine- and threonine-rich region, followed by the peptide LPDTGD, 4 charged amino acids, 21 amino acids with a strongly hydrophobic character, and a charged pentapeptide tail, which are proposed to correspond to the wall-spanning region, the LPXTGX consensus sequence, and the membrane-spanning domains of surface-associated proteins of gram-positive cocci. The FruA protein has significant homology with the Bacillus subtilis levanase (SacC), the Bacteroides fragilis levanase (ScrL), yeast invertases, and a number of other beta-fructosidases but not with fructosyltransferase, glucosyltransferases, or glucan-binding proteins of oral streptococci. Genes with homology to fruA were detected in S. mutans serotype c, e, and f strains, Streptococcus rattus, Streptococcus salivarius, and Streptococcus sanguis. A deletion derivative of FruA lacking the C-terminal 437 amino acids was still functional and could hydrolyze beta-(2,6)- and beta-(2,1)-linked sugars, but with altered preference for substrates. The data begin to define functional domains of the FruA protein and potential regulatory sites for induction, repression, growth rate control, and posttranslational localization of this multifunctional enzyme.

  1. Statistical method evaluation for differentially methylated CpGs in base resolution next-generation DNA sequencing data.

    Science.gov (United States)

    Zhang, Yun; Baheti, Saurabh; Sun, Zhifu

    2016-12-31

    High-throughput bisulfite methylation sequencing such as reduced representation bisulfite sequencing (RRBS), Agilent SureSelect Human Methyl-Seq (Methyl-seq) or whole-genome bisulfite sequencing is commonly used for base resolution methylome research. These data are represented either by the ratio of methylated cytosine versus total coverage at a CpG site or numbers of methylated and unmethylated cytosines. Multiple statistical methods can be used to detect differentially methylated CpGs (DMCs) between conditions, and these methods are often the base for the next step of differentially methylated region identification. The ratio data have a flexibility of fitting to many linear models, but the raw count data take consideration of coverage information. There is an array of options in each datatype for DMC detection; however, it is not clear which is an optimal statistical method. In this study, we systematically evaluated four statistic methods on methylation ratio data and four methods on count-based data and compared their performances with regard to type I error control, sensitivity and specificity of DMC detection and computational resource demands using real RRBS data along with simulation. Our results show that the ratio-based tests are generally more conservative (less sensitive) than the count-based tests. However, some count-based methods have high false-positive rates and should be avoided. The beta-binomial model gives a good balance between sensitivity and specificity and is preferred method. Selection of methods in different settings, signal versus noise and sample size estimation are also discussed. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  2. A 2.5 GS/s 14-bit D/A converter with 8 to 1 MUX

    Science.gov (United States)

    Jun'an, Zhang; Guangjun, Li; Ruitao, Zhang; Dongbing, Fu; Jiaoxue, Li; Yafeng, Wei; Bo, Yan; Jun, Liu; Ruzhang, Li

    2016-03-01

    A 2.5 GS/s 14-bit D/A converter (DAC) with 8 to 1 MUX is presented. This 14-bit DAC uses a “5+9” segment PMOS current-steering architecture. A bias circuit which ensures the PMOS current source obtains a larger output impedance under every PVT (process, source voltage and temperature) corner is also presented. The 8 to 1 MUX has a 3 stage structure, and a proper timing sequence is designed to ensure reliable data synthesis. A DEM function which is merged with a “5-31” decoder is used to improve the DAC's dynamic performance. This DAC is embedded in a 2.5 GHz direct digital frequency synthesizer (DDS) chip, and is implemented in a 0.18 μm CMOS technology, occupies 4.86 × 2. 28 mm2 including bond pads (DAC only), and the measured performance is SFDR > 40 dB (with and without DEM) for output signal frequency up to 1 GHz. Compared with other present published DACs with a non-analog-resample structure (means return-to-zero or quad-switch structure is unutilized), this paper DAC's clock frequency (2.5 GHz) and higher output frequency SFDR (> 40 dB, up to 1 GHz) has some competition. Project supported by the National Natural Science Foundation of China (Nos. 61006027, 61176030), the Research Foundation of Key Laboratory of Analog Integrated Circuit (Nos. 9140C0902120C09034, 9140c090204130c09042), and the Fundamental Research Funds for the Central Universities of China (No. ZYGX2012J003).

  3. CANGS: a user-friendly utility for processing and analyzing 454 GS-FLX data in biodiversity studies

    Directory of Open Access Journals (Sweden)

    Schlötterer Christian

    2010-01-01

    Full Text Available Abstract Background Next generation sequencing (NGS technologies have substantially increased the sequence output while the costs were dramatically reduced. In addition to the use in whole genome sequencing, the 454 GS-FLX platform is becoming a widely used tool for biodiversity surveys based on amplicon sequencing. In order to use NGS for biodiversity surveys, software tools are required, which perform quality control, trimming of the sequence reads, removal of PCR primers, and generation of input files for downstream analyses. A user-friendly software utility that carries out these steps is still lacking. Findings We developed CANGS (Cleaning and Analyzing Next Generation Sequences a flexible and user-friendly integrated software utility: CANGS is designed for amplicon based biodiversity surveys using the 454 sequencing platform. CANGS filters low quality sequences, removes PCR primers, filters singletons, identifies barcodes, and generates input files for downstream analyses. The downstream analyses rely either on third party software (e.g.: rarefaction analyses or CANGS-specific scripts. The latter include modules linking 454 sequences with the name of the closest taxonomic reference retrieved from the NCBI database and the sequence divergence between them. Our software can be easily adapted to handle sequencing projects with different amplicon sizes, primer sequences, and quality thresholds, which makes this software especially useful for non-bioinformaticians. Conclusion CANGS performs PCR primer clipping, filtering of low quality sequences, links sequences to NCBI taxonomy and provides input files for common rarefaction analysis software programs. CANGS is written in Perl and runs on Mac OS X/Linux and is available at http://i122server.vu-wien.ac.at/pop/software.html

  4. Optimization and assessment of quantitative {sup 124}I imaging on a Philips Gemini dual GS PET/CT system

    Energy Technology Data Exchange (ETDEWEB)

    Gregory, Rebecca A.; Hooker, Claire A.; Partridge, Mike; Flux, Glenn D. [Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Joint Department of Physics, Sutton (United Kingdom)

    2009-07-15

    Quantitative {sup 124}I PET imaging is challenging as {sup 124}I has a complex decay scheme. In this study the performance of a Philips Gemini dual GS PET/CT system was optimized and assessed for {sup 124}I. The energy window giving the maximum noise equivalent count rate (NECR) and NEMA 2001-NU2 image quality were measured. The activity concentration (AC) accuracy of images calibrated using factors from {sup 18}F and {sup 124}I decaying source measurements were investigated. The energy window 455-588 keV gave the maximum NECR of 9.67 kcps for 233 MBq. {sup 124}I and {sup 18}F image quality was comparable, although {sup 124}I background variability was increased. The average underestimation in AC in {sup 124}I images was 17.9 {+-} 2.9% for nonuniform background and 14.7 {+-} 2.9% for single scatter simulation (SSS) subtraction scatter correction. At 224 MBq the underestimation was 10.8 {+-} 11.3%, which is comparable to 7.7 {+-} 5.3% for {sup 18}F, but increased with decreasing activity. The best {sup 124}I PET quantitative accuracy was achieved for the optimized energy window, using SSS scatter correction and calibration factors from decaying {sup 124}I source measurements. The quantitative accuracy for {sup 124}I was comparable to that for {sup 18}F at high activities of 224 MBq but diminishing with decreasing activity. Specific corrections for prompt {gamma}-photons may further improve the quantitative accuracy. (orig.)

  5. Half molecular exchange of IgGs in the blood of healthy humans: chimeric lambda-kappa-immunoglobulins containing HL fragments of antibodies of different subclasses (IgG1-IgG4).

    Science.gov (United States)

    Sedykh, Sergey E; Lekchnov, Evgenii A; Prince, Viktor V; Buneva, Valentina N; Nevinsky, Georgy A

    2016-10-20

    In the classic paradigm, immunoglobulins represent products of clonal B cell populations, each producing antibodies recognizing a single antigen (monospecific). There is a common belief that IgGs in mammalian biological fluids are monospecific molecules having stable structures and two identical antigen-binding sites. But the issue concerning the possibility of exchange by HL-fragments between the antibody molecules in human blood is still unexplored. Different physico-chemical and immunological methods for analysis of half-molecule exchange between human blood IgGs were used. Using eighteen blood samples of healthy humans we have shown unexpected results for the first time: blood antibodies undergo extensive post-transcriptional half-molecule exchange and IgG pools on average consist of 62.4 ± 6.5% IgGs containing kappa light chains (kappa-kappa-IgGs), 29.8.6 ± 5.4% lambda light chains (lambda-lambda-IgGs), and 8.8 ± 2.7% (range 2.6-16.8%) IgGs containing both kappa- and lambda-light chains. Kappa-kappa-IgGs and lambda-lambda-IgGs contained on average (%): IgG1 (36.0 and 32.3), IgG2 (50.9 and 51.4), IgG3 (9.7 and 9.9), and IgG4 (6.5 and 5.7), while chimeric kappa-lambda-IgGs consisted of (%): 25.5 ± 4.2 IgG1, 50.8 ± 3.9 IgG2, 9.1 ± 2.1 IgG3, and 14.5 ± 2.2 IgG4. Our unexpected data are indicative of the possibility of half-molecule exchange between blood IgGs of various subclasses, raised against different antigens. The existence of blood chimeric bifunctional IgGs with different binding sites destroys the classic paradigm. Due to the phenomenon of polyspecificity and cross-reactivity of bifunctional IgGs containing HL-fragments of different types to different antigens, such IgGs may be important in human blood for widening their different biological functions.

  6. Discovery of triazolopyridinone GS-462808, a late sodium current inhibitor (Late INai) of the cardiac Nav1.5 channel with improved efficacy and potency relative to ranolazine.

    Science.gov (United States)

    Koltun, Dmitry O; Parkhill, Eric Q; Elzein, Elfatih; Kobayashi, Tetsuya; Jiang, Robert H; Li, Xiaofen; Perry, Thao D; Avila, Belem; Wang, Wei-Qun; Hirakawa, Ryoko; Smith-Maxwell, Catherine; Wu, Lin; Dhalla, Arvinder K; Rajamani, Sridharan; Mollova, Nevena; Stafford, Brian; Tang, Jennifer; Belardinelli, Luiz; Zablocki, Jeff A

    2016-07-01

    Previously we disclosed the discovery of potent Late INa current inhibitor 2 (GS-458967, IC50 of 333nM) that has a good separation of late versus peak Nav1.5 current, but did not have a favorable CNS safety window due to high brain penetration (3-fold higher partitioning into brain vs plasma) coupled with potent inhibition of brain sodium channel isoforms (Nav1.1, 1.2, 1.3). We increased the polar surface area from 50 to 84Å(2) by adding a carbonyl to the core and an oxadiazole ring resulting in 3 GS-462808 that had lower brain penetration and serendipitously lower activity at the brain isoforms. Compound 3 has an improved CNS window (>20 rat and dog) relative to 2, and improved anti-ischemic potency relative to ranolazine. The development of 3 was not pursued due to liver lesions in 7day rat toxicology studies.

  7. Stimulation of a Gs-like G protein in the osteoclast inhibits bone resorption but enhances tartrate-resistant acid phosphatase secretion.

    Science.gov (United States)

    Moonga, B S; Pazianas, M; Alam, A S; Shankar, V S; Huang, C L; Zaidi, M

    1993-01-29

    Previous studies have demonstrated that G-protein agonists induce quiescence (Q effect) or retraction (R effect) in isolated osteoclasts. We now report the functional effects of such agonists on osteoclastic bone resorption and enzyme release. Exposure of osteoclasts to tetrafluoro-aluminate anions (AlF4-), a universal G protein stimulator, resulted in a marked concentration-dependent inhibition of bone resorption. This was associated with a dramatic increase in the secretion of the osteoclast-specific enzyme, tartrate-resistant acid phosphatase (TRAP). Cholera toxin, a Gs stimulator and a selective Q effect agonist, similarly abolished bone resorption and enhanced TRAP secretion. In contrast, pertussis toxin, a Gi inhibitor and a selective R effect agonist, inhibited bone resorption significantly, but slightly reduced enzyme release. The results suggest an involvement of a Gs-like G protein in TRAP secretion from the osteoclast, possibly through a cyclic AMP-dependent mechanism.

  8. Radioiodine treatment in McCune-Albright syndrome with hyperthyroidism

    Directory of Open Access Journals (Sweden)

    Dhritiman Chakraborty

    2012-01-01

    Full Text Available McCune-Albright syndrome (MAS is a sporadic disease characterized by polyostotic fibrous dysplasia, "café-au-lait" spots and hyperfunctional endocrinopathies. Pathophysiological basis is activating mutation of the gene that encodes the alpha subunit of Gs membrane protein that stimulates the intracellular production of cAMP, conferring autonomous secretion of the gland in particular. One of the uncommon endocrine manifestations is hyperthyroidism. We present a patient who had café-au-lait spots, polyostotic fibrous dysplasia and hyperthyroidism. She was treated with radioactive iodine for the symptoms of hyperthyroidism and subsequently relieved from hyperthyroid features.

  9. Radioiodine treatment in McCune-Albright syndrome with hyperthyroidism.

    Science.gov (United States)

    Chakraborty, Dhritiman; Mittal, Bhagwant Rai; Kashyap, Raghava; Manohar, Kuruva; Bhattacharya, Anish; Bhansali, Anil

    2012-07-01

    McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia, "café-au-lait" spots and hyperfunctional endocrinopathies. Pathophysiological basis is activating mutation of the gene that encodes the alpha subunit of Gs membrane protein that stimulates the intracellular production of cAMP, conferring autonomous secretion of the gland in particular. One of the uncommon endocrine manifestations is hyperthyroidism. We present a patient who had café-au-lait spots, polyostotic fibrous dysplasia and hyperthyroidism. She was treated with radioactive iodine for the symptoms of hyperthyroidism and subsequently relieved from hyperthyroid features.

  10. Reassessment of the four yield-related genes Gn1a, DEP1, GS3 and IPA1 in rice using a CRISPR/Cas9 system

    Directory of Open Access Journals (Sweden)

    Meiru eLi

    2016-03-01

    Full Text Available Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR-associated (Cas systems have been successfully used as efficient tools for genome editing in a variety of species. We used the CRISPR/Cas9 system to mutate the Gn1a (Os01g0197700, DEP1 (Os09g0441900, GS3 (Os03g0407400 and IPA1 (Os08g0509600 genes of rice cultivar Zhonghua 11, genes which have been reported to function as regulators of grain number, panicle architecture, grain size and plant architecture, respectively. Analysis of the phenotypes and frequencies of edited genes in the first generation of transformed plants (T0 showed that the CRISPR/Cas9 system was highly efficient in inducing targeted gene editing, with the desired genes being edited in 42.5% (Gn1a, 67.5% (DEP1, 57.5% (GS3 and 27.5% (IPA1 of the transformed plants. The T2 generation of the gn1a, dep1, and gs3 mutants featured enhanced grain number,dense erect panicles and larger grain size, respectively. Furthermore, semi-dwarf, and grain with long awn, phenotypes were observed in dep1 and gs3 mutants, respectively. The ipa1 mutants showed two contrasting phenotypes, having either fewer tillers or more tillers, depending on the changes induced in the OsmiR156 target region. In addition, we found that mutants with deletions occurred more frequently than previous reports had indicated and that off-targeting had taken place in highly similar target sequences. These results proved that multiple regulators of important traits can be modified in a single cultivar by CRISPR/Cas9, and thus facilitate the dissection of complex gene regulatory networks in the same genomic background and the stacking of important traits in cultivated varieties.

  11. Construction of a multiplex mutation hot spot PCR panel: the first step towards colorectal cancer genotyping on the GS Junior platform

    Science.gov (United States)

    Péterfia, Bálint; Kalmár, Alexandra; Patai, Árpád V.; Csabai, István; Bodor, András; Micsik, Tamás; Wichmann, Barnabás; Egedi, Krisztina; Hollósi, Péter; Kovalszky, Ilona; Tulassay, Zsolt; Molnár, Béla

    2017-01-01

    Background: To support cancer therapy, development of low cost library preparation techniques for targeted next generation sequencing (NGS) is needed. In this study we designed and tested a PCR-based library preparation panel with limited target area for sequencing the top 12 somatic mutation hot spots in colorectal cancer on the GS Junior instrument. Materials and Methods: A multiplex PCR panel was designed to amplify regions of mutation hot spots in 12 selected genes (APC, BRAF, CTNNB1, EGFR, FBXW7, KRAS, NRAS, MSH6, PIK3CA, SMAD2, SMAD4, TP53). Amplicons were sequenced on a GS Junior instrument using ligated and barcoded adaptors. Eight samples were sequenced in a single run. Colonic DNA samples (8 normal mucosa; 33 adenomas; 17 adenocarcinomas) as well as HT-29 and Caco-2 cell lines with known mutation profiles were analyzed. Variants found by the panel on APC, BRAF, KRAS and NRAS genes were validated by conventional sequencing. Results: In total, 34 kinds of mutations were detected including two novel mutations (FBXW7 c.1740:C>G and SMAD4 c.413C>G) that have not been recorded in mutation databases, and one potential germline mutation (APC). The most frequently mutated genes were APC, TP53 and KRAS with 30%, 15% and 21% frequencies in adenomas and 29%, 53% and 29% frequencies in carcinomas, respectively. In cell lines, all the expected mutations were detected except for one located in a homopolymer region. According to re-sequencing results sensitivity and specificity was 100% and 92% respectively. Conclusions: Our NGS-based screening panel denotes a promising step towards low cost colorectal cancer genotyping on the GS Junior instrument. Despite the relatively low coverage, we discovered two novel mutations and obtained mutation frequencies comparable to literature data. Additionally, as an advantage, this panel requires less template DNA than sequence capture colon cancer panels currently available for the GS Junior instrument.

  12. vsp Gene Expression by Giardia lamblia Clone GS/M-83-H7 during Antigenic Variation In Vivo and In Vitro

    OpenAIRE

    2001-01-01

    Giardia lamblia infections are associated with antigenic variation of the parasite, which is generated by a continuous change of the variant-specific surface proteins (VSPs). Many investigations on the process of antigenic variation were based on the use of G. lamblia clone GS/M-83-H7, which expresses VSP H7 as its major surface antigen. In the present study, mice were infected with the aforementioned clonal line to investigate vsp gene expression during the complex process of antigenic varia...

  13. Wellens' syndrome

    Directory of Open Access Journals (Sweden)

    Franco Lai

    2007-12-01

    Full Text Available We report a case of quite rare cause of thoracic pain suspected by emergency physician as Wellens’ syndrome. Wellens’ syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending artery (LAD. This syndrome is about 10-15% of all unstable angina in emergency department (ED. The cardiologic consult was obtained in ED and it was not conclusive for a Wellens’ syndrome, so that the diagnostistic planning was wrong. The authors point out the importance of this syndrome in ED and the necessity of an urgent angiographic study as every acute coronary syndrome presented in ED. We remark the importance in ED to recognize these changes associated with critical LAD obstruction and the high risk for anterior wall myocardial infarction.

  14. [Autoinflammatory syndromes].

    Science.gov (United States)

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  15. The discovery of the optical/IR counterpart of the 12s transient X-ray pulsar GS 0834-43

    CERN Document Server

    Israel, G L; Campana, S; Polcaro, V F; Roche, P; Stella, L; Di Paola, A; Lazzati, D; Mereghetti, S; Giallongo, E; Fontana, A; Verrecchia, P

    2000-01-01

    We report the discovery of the optical/infra-red counterpart of the 12.3s transient X-ray pulsar GS0834-43. We re-analysed archival ROSAT PSPC observations of GS0834-43, obtaining two new refined positions, about 14" and 18" away from the previously published one, and a new spin period measurement. Within the new error circles we found a relatively faint (V=20.1) early type reddened star (V-R=2.24). The optical spectrum shows a strong Halpha emission line. The IR observations of the field confirm the presence of an IR excess for the Halpha-emitting star (K'=11.4, J-K'=1.94) which is likely surrounded by a conspicuous circumstellar envelope. Spectroscopic and photometric data indicate a B0-2 V-IIIe spectral-type star located at a distance of 3-5kpc and confirm the Be-star/X-ray binary nature of GS0834-43.

  16. DETERMINATION OF VIABILITY OF PEDIOCOCCUS SPP. GS4 AFTER STORAGE INTO HARD GELATIN CAPSULE AND ITS SURVIVAL UNDER IN VITRO SIMULATED GASTROINTESTINAL CONDITION

    Directory of Open Access Journals (Sweden)

    Bagad Mayur

    2012-04-01

    Full Text Available Probiotics are regarded as panacea for modern life. Aim of the study was to formulate the capsule comprising probiotic strain, Pediococcus spp. GS4 isolated from fermented food, Khadi and to examine its viability with and without excipients by exposing to simulated gastric fluid (SGF and simulated intestinal fluid (SIF at different time intervals. The empty hard gelatin capsule was filled with FDPP [Freeze dried powder of Pediococcus spp. GS4] aseptically adding excipients (lactose, ascorbic acid and inulin as Test and without excipients as Control. For stability studies both Test and Control capsules were stored at 4 ±1ºC for 28 days. In vitro viability of probiotic cells were studied using SGF and SIF respectively. The optimal composition of effective formula was found to be composed of 6% lactose, 2.5% ascorbic acid and 2% inulin which could protect maximum viability of cells. After 28 days, the viability of Test was improved by 3.73 logs (CFU/ml as compared to Control at 4 ±1º C (P < 0.05. Significant difference was observed between Test and Control when incubated sequentially in SGF (pH 2.5; 45 min and 90 min and SIF (pH 6.8; 150 min and 210 min. Hence, in vitro test showed that combination of suitable excipients have significant effect on the survival of Pediococcus spp. GS4 when exposed to gastrointestinal conditions (SGF, SIF.

  17. Urofacial syndrome

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    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  18. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

    Full Text Available Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  19. Gorlin syndrome.

    Science.gov (United States)

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  20. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  1. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  2. Goldenhar syndrome: a cause of secondary immunodeficiency?

    Directory of Open Access Journals (Sweden)

    De Golovine Serge

    2012-07-01

    Full Text Available Abstract Goldenhar syndrome (GS results from an aberrant development of the 1st and 2nd branchial arches. There is a wide range of clinical manifestations, the most common being microtia, hemifacial microsomia, epibulbar dermoids and vertebral malformations. We present two cases of GS and secondary immunodeficiency due to anatomical defects characteristic of this disorder. Case 1 (3-year-old female averaged 6 episodes of sinusitis and otitis media per year. Case 2 (7-year-old female also had recurrent otitis media, an episode of bacterial pneumonia, and 2 episodes of bacterial meningitis. Their immune evaluation included a complete blood count with differential, serum immunoglobulin levels and specific antibody concentrations, lymphocyte phenotyping, and mitogen and antigen responses, the results of which were all within normal ranges. Both children demonstrated major structural abnormalities of the inner and middle ear structures, retention of fluid in mastoid air cells, and chronic sinusitis by computed tomography. These two cases illustrate how a genetically-associated deviation of the middle ear cleft can cause recurrent infections and chronic inflammation of the middle ear and adjacent sinuses, even meninges, leading to a greatly reduced quality of life for the child and parents.

  3. 甲减影响新生期鼠脑梨状皮质Goα及Gsα的基因表达%Goα and Gsα Gene Expression in Piriform Cortex of Brain in Neonatal Rats with Hypothyroidism

    Institute of Scientific and Technical Information of China (English)

    蔡东升; 陈源; 陈刚; 金群燕; 李果; 罗敏

    2000-01-01

    目的"研究甲状腺功能低下对新生期鼠脑梨状皮质Goα及Gsα mRNA表达的影响. 方法"采用地高辛标记寡核苷酸探针原位杂交技术,对围生期正常及甲减Wistar大鼠动物模型梨状皮质Goα及Gsα mRNA的表达状况进行研究. 结果"14d龄甲减鼠脑梨状皮质Goα mRNA的表达明显升高,但其Gsα mRNA与对照组无显著差异.结论"在鼠脑发育过程中,甲状腺激素对梨状皮质Goα基因的表达具有负调作用,而对该区Gsα基因的表达则不具备调节功能.

  4. Anti-tumor efficacy study of the Bruton's tyrosine kinase (BTK) inhibitor, ONO/GS-4059, in combination with the glycoengineered type II anti-CD20 monoclonal antibody obinutuzumab (GA101) demonstrates superior in vivo efficacy compared to ONO/GS-4059 in combination with rituximab.

    Science.gov (United States)

    Yasuhiro, Tomoko; Sawada, Wako; Klein, Christian; Kozaki, Ryohei; Hotta, Shingo; Yoshizawa, Toshio

    2017-03-01

    The activated B-cell diffuse large B-cell-like lymphoma (ABC-DLBCL) correlates with poor prognosis. The B-cell receptor signaling pathway is known to be dysregulated in NHL/CLL and given BTK is a downstream mediator of BCR signaling, BTK constitutes an interesting and obvious therapeutic target. Given the high potency and selectivity of the BTK inhibitor, ONO/GS-4059, it was hypothesized that, the anti-tumor activity of ONO/GS-4059 could be further enhanced by combining it with the anti-CD20 Abs, rituximab (RTX) or obinutuzumab (GA101). ONO/GS-4059 combined with GA101 or RTX was significantly better than the respective monotherapy with tumor growth inhibition (TGI) of 90% for the GA101 combination and 86% for the RTX combination. In contrast, ibrutinib (PCI-32765) combined with RTX did not result in improved efficacy compared with respective monotherapy. Taken together these data indicate that the combination of ONO/GS-4059 with rituximab and particularly obinutuzumab may be an effective treatment for ABC-DLBCL.

  5. INTERACCIÓN DE LA GLUTAMINA SINTETASA (GS Y EL PÉPTIDO β -AMILOIDE COMO UNA ESTRATEGIA DE PURIFICACIÓN

    Directory of Open Access Journals (Sweden)

    Sonia Luz Albarracín

    2013-08-01

    Full Text Available La enfermedad de Alzheimer (EA esla forma de demencia más común en laedad adulta. Se manifiesta con la pérdidaprogresiva de la memoria a medida quelas neuronas en la corteza cerebral y elhipocampo mueren. En todas las formasde EA se evidencia aumento de la expresiónde diferentes proteínas, así comola presencia de agregados insolubles depéptido-β-amiloide (PBA. La glutaminasintetasa (GS es una enzima clave en elmetabolismo del glutamato y en la detoxificaciónde amonio (NH4+. Previamentese ha reportado una posible interacciónGS-PBA que puede estar asociada conEA. En este trabajo se realizó la purificaciónde la enzima cerebral de rata a partirde un extracto sometido a precipitaciónfraccionada con (NH42SO4 del 20-60 %de saturación y posteriormente a travésde cromatografías sucesivas de filtraciónen gel, intercambio iónico y afinidad. Elpeso molecular del complejo fue calculadoen 137 kDa por el orden de eluciónen la columna de filtración. Se identificóinteracción de la enzima con PBA1-40, lográndose la purificación de unasola banda de 45 kDa, correspondiente ala forma monomérica de la GS. En estetrabajo se presenta un nuevo método depurificación de la enzima y se demuestrala interacción de GS con el PBA. Se proponeque esta interacción GS-PBA puedeser uno de los procesos que se presentanen la enfermedad al explicar la reducciónde la actividad de la enzima en pacientes con EA, ya que podría alterar el cicloglutamato-glutamina y generar cambiosen el entorno celular que favorecen excitotoxicidadpor glutamato típica de losprocesos de neurodegeneración.

  6. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  7. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causi...

  8. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  9. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  10. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  11. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat

    2011-01-01

    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  12. LEOPARD syndrome

    Science.gov (United States)

    ... L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 www.ncbi.nlm.nih.gov/pubmed/18627709 . Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: ...

  13. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  14. Poland syndrome

    OpenAIRE

    Chandra Madhur Sharma; Shrawan Kumar; Meghwani, Manoj K.; Agrawal, Ravi P.

    2014-01-01

    Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  15. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  16. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra

    2006-09-01

    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  17. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

  18. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  19. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  20. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  1. Jerusalem syndrome.

    Science.gov (United States)

    Bar-el, Y; Durst, R; Katz, G; Zislin, J; Strauss, Z; Knobler, H Y

    2000-01-01

    Jerusalem's psychiatrists expect to encounter, as the millennium approaches, an ever-increasing number of tourists who, upon arriving in Jerusalem, may suffer psychotic decompensation. To describe the Jerusalem syndrome as a unique acute psychotic state. This analysis is based on accumulated clinical experience and phenomenological data consisting of cultural and religious perspectives. Three main categories of the syndrome are identified and described, with special focus on the category pertaining to spontaneous manifestations, unconfounded by previous psychotic history or psychopathology. The discrete form of the Jerusalem syndrome is related to religious excitement induced by proximity to the holy places of Jerusalem, and is indicated by seven characteristic sequential stages.

  2. GsAPK, an ABA-activated and calcium-independent SnRK2-type kinase from G. soja, mediates the regulation of plant tolerance to salinity and ABA stress.

    Science.gov (United States)

    Yang, Liang; Ji, Wei; Gao, Peng; Li, Yong; Cai, Hua; Bai, Xi; Chen, Qin; Zhu, Yanming

    2012-01-01

    Plant Snf1 (sucrose non-fermenting-1) related protein kinase (SnRK), a subfamily of serine/threonine kinases, has been implicated as a crucial upstream regulator of ABA and osmotic signaling as in many other signaling cascades. In this paper, we have isolated a novel plant specific ABA activated calcium independent protein kinase (GsAPK) from a highly salt tolerant plant, Glycine soja (50109), which is a member of the SnRK2 family. Subcellular localization studies using GFP fusion protein indicated that GsAPK is localized in the plasma membrane. We found that autophosphorylation and Myelin Basis Protein phosphorylation activity of GsAPK is only activated by ABA and the kinase activity also was observed when calcium was replaced by EGTA, suggesting its independence of calcium in enzyme activity. We also found that cold, salinity, drought, and ABA stress alter GsAPK gene transcripts and heterogonous overexpression of GsAPK in Arabidopsis alters plant tolerance to high salinity and ABA stress. In summary, we demonstrated that GsAPK is a Glycine soja ABA activated calcium independent SnRK-type kinase presumably involved in ABA mediated stress signal transduction.

  3. Changes in El Niño - Southern Oscillation (ENSO) conditions during the Greenland Stadial 1 (GS-1) chronozone revealed by New Zealand tree-rings

    Science.gov (United States)

    Palmer, Jonathan G.; Turney, Chris S. M.; Cook, Edward R.; Fenwick, Pavla; Thomas, Zoë; Helle, Gerhard; Jones, Richard; Clement, Amy; Hogg, Alan; Southon, John; Bronk Ramsey, Christopher; Staff, Richard; Muscheler, Raimund; Corrège, Thierry; Hua, Quan

    2016-12-01

    The warming trend at the end of the last glacial was disrupted by rapid cooling clearly identified in Greenland (Greenland Stadial 1 or GS-1) and Europe (Younger Dryas Stadial or YD). This reversal to glacial-like conditions is one of the best known examples of abrupt change but the exact timing and global spatial extent remain uncertain. Whilst the wider Atlantic region has a network of high-resolution proxy records spanning GS-1, the Pacific Ocean suffers from a scarcity of sub-decadally resolved sequences. Here we report the results from an investigation into a tree-ring chronology from northern New Zealand aimed at addressing the paucity of data. The conifer tree species kauri (Agathis australis) is known from contemporary studies to be sensitive to regional climate changes. An analysis of a 'historic' 452-year kauri chronology confirms a tropical-Pacific teleconnection via the El Niño - Southern Oscillation (ENSO). We then focus our study on a 1010-year sub-fossil kauri chronology that has been precisely dated by comprehensive radiocarbon dating and contains a striking ring-width downturn between ∼12,500 and 12,380 cal BP within GS-1. Wavelet analysis shows a marked increase in ENSO-like periodicities occurring after the downturn event. Comparison to low- and mid-latitude Pacific records suggests a coherency with ENSO and Southern Hemisphere atmospheric circulation change during this period. The driver(s) for this climate event remain unclear but may be related to solar changes that subsequently led to establishment and/or increased expression of ENSO across the mid-latitudes of the Pacific, seemingly independent of the Atlantic and polar regions.

  4. Genetic susceptibility to Gilbert's syndrome in a valencian population; efficacy of the fasting test.

    Science.gov (United States)

    Torres, A K; Escartín, N; Monzó, C; Guzmán, C; Ferrer, I; González-Muñoz, C; Peña, P; Monzó, V; Marcaida, G; Rodríguez-López, R

    To describe the populational distribution of the UGT1A1*28 variant (genetic variant code rs8175347) located in the promotor of the UGT gene and correlate its genotypes with the results of the fasting test, as well as its relationship with the biochemical disorder of Gilbert's syndrome (GS) in a Valencian population. We studied the prevalence of the genotypes (TA)6/6 (TA)6/7 and (TA)7/7 of the deleterious variant rs8175347 in 144 patients with hyperbilirubinemia, 38 of whom had previously undergone the fasting test to diagnose GS, and in 150 control patients. By analysing the genomic region of the TATA box of the UGT1A1 gene promotor using Sanger sequencing, we established the correlation between the rs8175347 genotypes and the fasting test results and with the patients' biochemical disorders. The rate of heterozygosity of allele (TA)7 in the control population was 32% and increased to 87.59% among the patients with suspected GS. The rate of genotype TA7/7 was 81.94% among the patients with hyperbilirubinemia, compared with 11.33% in the control patients. The fasting test showed a 15.79% rate of false negatives and a 5.26% rate of false positives. The high frequency of allele (TA)7 among the Valencian control population, almost double the 5% reported for European control patients, confirms the high rate of GS reported in the Spanish population, without observing significant differences between the geographical ends of the country. The efficacy and reliability of the fasting test for the diagnosis of GS is questionable. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  5. Erythrocytosis in a Patient with Type 1 Diabetes Mellitus and Concomitant Gitelman’s Syndrome

    Directory of Open Access Journals (Sweden)

    Müge Keskin

    2016-06-01

    Full Text Available Gitelman’s syndrome (GS is characterized by hypokalemia, hypomagnesaemia, hypocalciuria, metabolic alkalosis, and neurological symptoms. The association of GS with type 1 diabetes is rare, described only in a few case reports. We report a patient with an unusual combination of GS and type 1 diabetes mellitus with erythrocytosis. A 26-year-old male with GS and type 1 diabetes, who was on intensive insulin therapy with poor compliance, presented with the complaint of headache. On physical examination, his blood pressure was 120/70 mmHg and there was no neurological deficit or proximal muscle weakness. He had no previous medical history of obstructive sleep apnea, heart or lung disease. He had negative smoking history. His laboratory tests revealed erythrocytosis with a hemoglobin level of 18.9 g/dL (13.6-17.2 g/dL and a hematocrit level of 54.8% (39.5-50.3%. Cranial magnetic resonance imaging was normal. He had no evidence of hypovolemia. Hematological workout excluded polycythemia vera and chronic myeloid neoplasm. A bone marrow aspiration revealed a hypercellular marrow with increased erythroid precursors, megakaryocytes and granulocytes. The reticulin stain grade was zero. There was no iron accumulation with iron stain. There was no radiologic evidence of any kind of erythropoietin-producing tumors. His echocardiography was normal. Serum insulin-like growth factor-1 levels and endogenous androgens were within normal limits. After 2 therapeutic phlebotomies, his symptoms improved and his hemoglobin was 16.1 mg/dL. Our patient, besides having GS and type 1 diabetes, was complicated with idiopathic erythrocytosis, all having deleterious effects on hemodynamic status of the patient.

  6. Control por fosfodiesterasas de la función cardíaca activada por los receptores acoplados a la proteína Gs

    OpenAIRE

    2009-01-01

    Los receptores ß-adrenérgicos (ßAR) y de serotonina (5-HT4) median sus efectos en tejidos cardiacos a través de la ruta receptor-Gs-AC-AMPc. Las fosfodiesterasas (PDE) son una amplia familia de enzimas cuya función es la degradación del AMPc. Se desconocía que isoenzimas de PDEs son responsables de la hidrólisis de AMPc en las diferentes regiones cardiacas. El objetivo de esta tesis doctoral es investigar que isoenzimas de PDEs tienen actividad en el miocardio humano, porcino y de roedores. S...

  7. vsp gene expression by Giardia lamblia clone GS/M-83-H7 during antigenic variation in vivo and in vitro.

    Science.gov (United States)

    Bienz, M; Siles-Lucas, M; Wittwer, P; Müller, N

    2001-09-01

    Giardia lamblia infections are associated with antigenic variation of the parasite, which is generated by a continuous change of the variant-specific surface proteins (VSPs). Many investigations on the process of antigenic variation were based on the use of G. lamblia clone GS/M-83-H7, which expresses VSP H7 as its major surface antigen. In the present study, mice were infected with the aforementioned clonal line to investigate vsp gene expression during the complex process of antigenic variation of the parasite. Trophozoites collected from the intestines of individual animals at different time points postinfection (p.i.) were analyzed directly for their vsp gene expression patterns, i.e., without cultivating the recovered parasites in vitro. Because few trophozoites were recovered at late time points p.i., a combined 5' rapid amplification of cDNA ends-reverse transcription-PCR approach was utilized. This allowed detection and subsequent sequence analysis of vsp gene transcripts upon generation of amplified cDNA analogues. The same PCR approach was applied for analysis of vsp gene expression in variants obtained after negative selection of axenic GS/M-83-H7 trophozoites by treatment with a cytotoxic, VSP H7-specific monoclonal antibody. In an overall view of the entire panel of in vivo- and in vitro-derived parasite populations, expression of 29 different vsp gene sequences could be demonstrated. In vivo antigenic variation of G. lamblia clone GS/M-83-H7 was shown to be a continuous process involving the consecutive appearance of relatively distinct sets of vsp transcripts. During the 42-day infection period investigated, this process activated at least 22 different vsp genes. Comparative molecular analyses of the amino acid level demonstrated that all cDNA segments identified encode structural elements typical of the terminal segment of Giardia VSP. The similarity of most of the GS/M-83-H7 VSP sequences identified in the present study supports previous

  8. A cAMP Biosensor-Based High-Throughput Screening Assay for Identification of Gs-Coupled GPCR Ligands and Phosphodiesterase Inhibitors

    DEFF Research Database (Denmark)

    Vedel, Line; Bräuner-Osborne, Hans; Mathiesen, Jesper Mosolff

    2015-01-01

    resulted in prolonged signaling and enabled detection of weak partial agonists and/or ligands with low potency, which is highly advantageous in large HTS settings and hit identification. In addition, the assay enabled detection of β2AR inverse agonists and PDE inhibitors. High signal-to-noise ratios were...... in living cells. We used the β2-adrenergic receptor (β2AR) as a representative Gs-coupled receptor and characterized two cell lines with different expression levels. Low receptor expression allowed detection of desensitization kinetics and delineation of partial agonism, whereas high receptor expression...

  9. [Autoinflammatory syndromes/fever syndromes].

    Science.gov (United States)

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  10. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  11. Reye Syndrome

    Science.gov (United States)

    ... A Life After Diagnosis Support for Chronic Illness Corporate Partnerships Interview with Kristen Hanks Liver Lowdown July ... poor blood clotting and bleeding caused by liver failure. What are the symptoms of Reye syndrome? Reye ...

  12. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  13. Premenstrual syndrome

    National Research Council Canada - National Science Library

    Kwan, Irene; Onwude, Joseph Loze

    2015-01-01

    A woman has premenstrual syndrome (PMS) if she complains of recurrent psychological and/or physical symptoms occurring during the luteal phase of the menstrual cycle, and often resolving by the end of menstruation...

  14. Zellweger Syndrome

    Science.gov (United States)

    ... done? The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ...

  15. Autoinflammatory syndromes.

    Science.gov (United States)

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A

    2006-01-01

    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  16. Piriformis Syndrome

    Science.gov (United States)

    ... of sitting for a long period of time, climbing stairs, walking, or running. × Definition Piriformis syndrome is a ... of sitting for a long period of time, climbing stairs, walking, or running. View Full Definition Treatment Generally, ...

  17. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart,...

  18. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  19. Neurocutaneous Syndromes

    Science.gov (United States)

    ... affect kids include: neurofibromatosis, types 1 and 2 (NF1 and NF2) Sturge-Weber syndrome tuberous sclerosis (TS) ... forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is ...

  20. Usher Syndrome

    Science.gov (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... syndrome gene have a child together, with each birth there is a: 1-in-4 chance of ...

  1. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne;

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  2. Beals Syndrome

    Science.gov (United States)

    ... arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome. How ... remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When ...

  3. Isaac's Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  4. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  5. Dressler's Syndrome

    Science.gov (United States)

    ... syndrome can cause more-serious complications, including: Cardiac tamponade. Inflammation of the pericardium can cause fluids to ... including: Draining excess fluids. If you develop cardiac tamponade, your doctor will likely recommend a procedure (pericardiocentesis) ...

  6. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  7. Down Syndrome

    Science.gov (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  8. Metabolic syndrome

    Science.gov (United States)

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  9. Eagle's Syndrome

    OpenAIRE

    Pinheiro, Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  10. SAPHO syndrome.

    Science.gov (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  11. Gitelman's syndrome in pregnancy: case report and review of the literature.

    LENUS (Irish Health Repository)

    McCarthy, Fergus P

    2012-01-31

    Gitelman\\'s syndrome (GS), a rare renal disorder, results in hypokalaemia, hypomagnesaemia, hypocalciuria and a metabolic alkalosis. It is unclear if an alteration in management is necessary or beneficial during pregnancy. A 32-year-old woman with GS was managed in her second pregnancy. Antenatally, the patient required 39 (principally day case) admissions to the hospital for intravenous (IV) therapy and received a cumulative total of 47 l of IV 0.9% saline solution, 47 doses of 20 mmol magnesium chloride and 46 doses of 80 mmol potassium chloride. She delivered a 2940-g female infant in excellent condition by caesarean section. We would suggest that close attention to maternal weight gain during pregnancy is an easily available clinical tool to assess adequacy of fluid and electrolyte repletion in this condition.

  12. Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives.

    Science.gov (United States)

    Robinson, Cemre; Collins, Michael T; Boyce, Alison M

    2016-10-01

    Fibrous dysplasia (FD) is an uncommon and debilitating skeletal disorder resulting in fractures, deformity, functional impairment, and pain. It arises from post-zygotic somatic activating mutations in GNAS, in the cAMP-regulating transcript α-subunit, Gsα. Constitutive Gs signaling results in activation of adenylyl cyclase and dysregulated cAMP production. In the skeleton, this leads to the development of FD lesions with abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. FD may occur in isolation or in combination with extraskeletal manifestations, including hyperfunctioning endocrinopathies and café-au-lait macules, termed McCune-Albright syndrome (MAS). This review summarizes current clinical and translational perspectives in FD/MAS, with an emphasis on FD pathogenesis, natural history, pre-clinical and clinical investigation, and future directions.

  13. Carpenter syndrome.

    Science.gov (United States)

    Hidestrand, Pip; Vasconez, Henry; Cottrill, Carol

    2009-01-01

    Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

  14. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome A A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  15. Down Syndrome (For Kids)

    Science.gov (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  16. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  17. Cardiac Syndrome X

    Science.gov (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  18. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the ...

  19. What is Metabolic Syndrome?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  20. Learning about WAGR Syndrome

    Science.gov (United States)

    ... used are: WAGR Complex Wilms' Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Wilms' Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Chromosome 11p deletion syndrome 11p deletion syndrome The cause ...

  1. Escobar syndrome mimicing congenital patellar syndrome

    National Research Council Canada - National Science Library

    Ezirmik, Naci; Yildiz, Kadri; Can, Cahit Emre

    2012-01-01

    ...) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome...

  2. Sandwich-type electrochemical immunosensor for the detection of AFP based on Pd octahedral and APTES-M-CeO₂-GS as signal labels.

    Science.gov (United States)

    Wei, Yicheng; Li, Yan; Li, Na; Zhang, Yong; Yan, Tao; Ma, Hongmin; Wei, Qin

    2016-05-15

    In the present work, an ultrasensitive sandwich-type electrochemical immunosensor based on a novel signal amplification strategy was designed for quantitative detection of alpha fetoprotein (AFP). Au nanoparticles with biocompatibility were electrodeposited on the surface of glassy carbon electrode (GCE) which can effectively capture and immobilize primary anti-AFP (Ab1) to significantly amplify the electrochemical signal. Graphene Oxide and CeO2 mesoporous nanocomposite functionalized by the 3-aminopropyltriethoxysilane supported Pd octahedral nanoparticles (Pd/APTES-M-CeO2-GS) were utilized as labels of detection anti-AFP (Ab2). Pd octahedral nanoparticles presented good catalytic activity towards the reduction of H2O2. Due to the large specific surface area and good adsorption properties of APTES-CeO2-GS nanocomposite, large amount of Pd octahedral nanoparticles could be immobilized, which could amplify the electrochemical signal and improve the sensitivity of the immunosensor. Under optimal conditions, the immunosensor exhibited wide linear range from 0.1 pg/mL to 50 ng/mL with a low detection limit of 0.033 pg/mL (S/N=3) for AFP detection. In addition, high sensitivity, excellent selectivity, good reproducibility and stability were obtained for the immunosensor, which has a promising application for quantitative detection of other tumor markers in clinical diagnosis.

  3. On Using SysML, DoDAF 2.0 and UPDM to Model the Architecture for the NOAA's Joint Polar Satellite System (JPSS) Ground System (GS)

    Science.gov (United States)

    Hayden, Jeffrey L.; Jeffries, Alan

    2012-01-01

    The JPSS Ground System is a lIexible system of systems responsible for telemetry, tracking & command (TT &C), data acquisition, routing and data processing services for a varied lIeet of satellites to support weather prediction, modeling and climate modeling. To assist in this engineering effort, architecture modeling tools are being employed to translate the former NPOESS baseline to the new JPSS baseline, The paper will focus on the methodology for the system engineering process and the use of these architecture modeling tools within that process, The Department of Defense Architecture Framework version 2,0 (DoDAF 2.0) viewpoints and views that are being used to describe the JPSS GS architecture are discussed. The Unified Profile for DoOAF and MODAF (UPDM) and Systems Modeling Language (SysML), as ' provided by extensions to the MagicDraw UML modeling tool, are used to develop the diagrams and tables that make up the architecture model. The model development process and structure are discussed, examples are shown, and details of handling the complexities of a large System of Systems (SoS), such as the JPSS GS, with an equally complex modeling tool, are described

  4. Ultrasensitive electrochemical aptasensor for the detection of thrombin based on dual signal amplification strategy of Au@GS and DNA-CoPd NPs conjugates.

    Science.gov (United States)

    Wang, Yaoguang; Zhang, Yong; Yan, Tao; Fan, Dawei; Du, Bin; Ma, Hongmin; Wei, Qin

    2016-06-15

    In this work, an ultrasensitive electrochemical aptasensor for the detection of thrombin was developed based on Au nanoparticles decorated graphene sheet (Au@GS) and CoPd binary nanoparticles (CoPd NPs). A sulfydryl-labeled thrombin capture probe (Apt1) and a biotin-labeled thrombin reporter probe (Apt2) were designed to achieve a sandwich-type strategy. Au@GS was used as a sensing platform for the facile immobilization of Apt1 through Au-S bond, forming a sensing interface for thrombin. The specific recognition of thrombin induced the attachment of Apt2-CoPd NPs to the electrode. The labeled CoPd NPs showed good catalytic properties toward the reduction of H2O2, resulting in an amperometric signal. The amperometric response was correlated to the thrombin concentration in sample solutions. Cyclic voltammetry (CV) and electrochemical impedance spectroscopy (EIS) confirmed the successful fabrication of the aptasensor. A linear response to thrombin in the range of 0.01-2.00 ng mL(-1) with a low detection limit (5 pg mL(-1)) was achieved. The proposed aptasensor showed good selectivity, good reproducibility and acceptable stability. This proposed strategy may find many potential applications in the detection of other biomolecules.

  5. Development of a sensitive UPLC-ESI-MS/MS method for quantification of sofosbuvir and its metabolite, GS-331007, in human plasma: Application to a bioequivalence study.

    Science.gov (United States)

    Rezk, Mamdouh R; Basalious, Emad B; Karim, Iman A

    2015-10-10

    A rapid and simple LC-MS/MS method was developed and validated for the simultaneous estimation of sofosbuvir (SF) and its metabolite GS-331007 (GS) using famotidine as an internal standard (IS). The Xevo TQD LC-MS/MS was operated under the multiple-reaction monitoring mode using electrospray ionization. Extraction with ethyl acetate was used in sample preparation. The prepared samples were chromatographed on Acquity UPLC HSS C₁₈ (50 mm × 2.1 mm, 1.8 μm) column by pumping 0.1% formic acid and acetonitrile (50:50, v/v) in an isocratic mode at a flow rate of 0.3 ml/min. Method validation was performed as per the FDA guidelines and the standard curves were found to be linear in the range of 10-2500 ng/ml for both SF and its metabolite. The intra-day and inter-day precision and accuracy results were within the acceptable limits. A very short run time of 1.2 min made it possible to analyze more than 300 human plasma samples per day. The developed assay method was successfully applied to a bioequivalence study in human volunteers.

  6. Heterologous expression of type I antifreeze peptide GS-5 in baker's yeast increases freeze tolerance and provides enhanced gas production in frozen dough.

    Science.gov (United States)

    Panadero, Joaquin; Randez-Gil, Francisca; Prieto, Jose Antonio

    2005-12-28

    The demand for frozen-dough products has increased notably in the baking industry. Nowadays, no appropriate industrial baker's yeast with optimal gassing capacity in frozen dough is, however, available, and it is unlikely that classical breeding programs could provide significant improvements of this trait. Antifreeze proteins, found in diverse organisms, display the ability to inhibit the growth of ice, allowing them to survive at temperatures below 0 degrees C. In this study a recombinant antifreeze peptide GS-5 was expressed from the polar fish grubby sculpin (Myoxocephalus aenaeus) in laboratory and industrial baker's yeast strains of Saccharomyces cerevisiae. Production of the recombinant protein increased freezing tolerance in both strains tested. Furthermore, expression of the GS-5 encoding gene enhanced notably the gassing rate and total gas production in frozen and frozen sweet doughs. These effects are unlikely to be due to reduced osmotic damage during freezing/thawing, because recombinant cells showed growth behavior similar to that of the parent under hypermosmotic stress conditions.

  7. Biological Characteristics of Bacillus thuringiensis Isolate GS8 and Identification of its cry-type Genes%苏云金芽胞杆菌GS8菌株的生物学特性及其cry基因型鉴定

    Institute of Scientific and Technical Information of China (English)

    刘廷辉; 郭巍; 申建茹

    2009-01-01

    采用桑叶浸渍法和饲料表面覆盖法测定发现,从土壤中分离的一株苏云金芽胞杆菌菌株GS8对家蚕Bombyx mori、甜菜夜蛾Spodoptera exigrua和棉铃虫Helicoverpa armigera初孵幼虫均表现出较高的杀虫活性,经形态学和生理生化反应鉴定该菌株为东北亚种(Bacillus thuringiensis subsp.tohokuensis).聚丙烯酰胺凝胶电泳(SDS-PAGE)分析结果表明,GS8菌株的杀虫蛋白晶体主要由分子质量为130、81和60 kDa的蛋白组成.聚合酶链反应-限制性片段长度多态性(PCR-RFLP)鉴定结果显示,GS8菌株含有cry1Aa、cry1Ab、cry1Ib、cry2Ab和cry9Ba等基因.

  8. Constitutive Overexpression of Myo-inositol-1-Phosphate Synthase Gene (GsMIPS2) fromGlycine soja Confers Enhanced Salt Tolerance at Various Growth Stages inArabidopsis

    Institute of Scientific and Technical Information of China (English)

    Zaib-un-Nisa; Chen Chen; Yang Yu; Chao Chen; ALi Inayat Mallano; Duan Xiang-bo; Sun Xiao-li; Zhu Yan-ming

    2016-01-01

    The enzymemyo-inositol-1-phosphate synthase (MIPS EC 5.5.1.4) catalyzes the first step ofmyo-inositol biosynthesis, a product that plays crucial roles in plants as an osmoprotectant, transduction molecule, cell wall constituent and production of stress related molecule. Previous reports highlighted an important role of MIPS family genes in abiotic stresses particularly under salt stress tolerance in several plant species; however, little is known about the cellular and physiological functions ofMIPS2 genes under abiotic conditions. In this study, a novel salt stress responsive gene designatedGsMIPS2 from wild soybean Glycine soja07256 was functionally characterized contained an open reading frame (ORF) of 1 533 bp coding a peptide sequence of 510 amino acids along with mass of 56 445 ku. Multiple sequence alignment analysis revealed its 92%-99% similarity with other MIPS family members in legume proteins. Quantitative real-time PCR results demonstrated thatGsMIPS2 was induced by salt stress and expressed in roots of soybean. The positive function ofGsMIPS2 under salt response at different growth stages of transgenicArabidopsis was also elucidated. The results showed thatGsMIPS2 transgenic lines displayed increased tolerance as compared to WT andatmips2 mutant lines under salt stress. Furthermore, the expression levels of some salt stress responsive marker genes, including KIN1,RD29A, RD29B,P5CsandCOR47 were significantly up-regulated inGsMIPS2 overexpression lines than wild type andatmips2 mutant. Collectively, these results suggested thatGsMIPS2 gene was a positive regulator of plant tolerance to salt stress. This was the first report to demonstrate that overexpression ofGsMIPS2 gene from wild soybean improved salt tolerance in transgenicArabidopsis.

  9. Genome sequencing of Giardia lamblia genotypes A2 and B isolates (DH and GS) and comparative analysis with the genomes of genotypes A1 and E (WB and Pig).

    Science.gov (United States)

    Adam, Rodney D; Dahlstrom, Eric W; Martens, Craig A; Bruno, Daniel P; Barbian, Kent D; Ricklefs, Stacy M; Hernandez, Matthew M; Narla, Nirmala P; Patel, Rima B; Porcella, Stephen F; Nash, Theodore E

    2013-01-01

    Giardia lamblia (syn G. intestinalis, G. duodenalis) is the most common pathogenic intestinal parasite of humans worldwide and is a frequent cause of endemic and epidemic diarrhea. G. lamblia is divided into eight genotypes (A-H) which infect a wide range of mammals and humans, but human infections are caused by Genotypes A and B. To unambiguously determine the relationship among genotypes, we sequenced GS and DH (Genotypes B and A2) to high depth coverage and compared the assemblies with the nearly completed WB genome and draft sequencing surveys of Genotypes E (P15; pig isolate) and B (GS; human isolate). Our results identified DH as the smallest Giardia genome sequenced to date, while GS is the largest. Our open reading frame analyses and phylogenetic analyses showed that GS was more distant from the other three genomes than any of the other three were from each other. Whole-genome comparisons of DH_A2 and GS_B with the optically mapped WB_A1 demonstrated substantial synteny across all five chromosomes but also included a number of rearrangements, inversions, and chromosomal translocations that were more common toward the chromosome ends. However, the WB_A1/GS_B alignment demonstrated only about 70% sequence identity across the syntenic regions. Our findings add to information presented in previous reports suggesting that GS is a different species of Giardia as supported by the degree of genomic diversity, coding capacity, heterozygosity, phylogenetic distance, and known biological differences from WB_A1 and other G. lamblia genotypes.

  10. F 18 FDG PET/CT Findings of Spontaneous Mesenteric Fibromatosis in a Patient with Gardner's Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Sohn, Myung Hee; Jeong, Young Jin; Lim, Seok Tae; Kim, Dong Wook; Jeong, Hwan Jeong; Yim, Chang Yeol [Chonbuk National Univ. Medical School and Hospital, Jeonju (Korea, Republic of)

    2011-06-15

    Gardner's syndrome (GS), a variant of familial adenomatous polyposis, is an autosomal dominant disease. Originally, Gardner described a syndrome consisting of hereditary intestinal polyposis With osteomas and multiple cutaneous and subcutaneous lesions. The syndrome was later modified by the addition of other features, such as dental abnormalities, abdominal fibromatosis, and a number of malignant tumors. the principal cutaneous lesions that have been described in GS are epidermoid cysts. Other cutaneous lesions include fibromas, lipomas, leiomyomas, neurofibromas, and pigmented skin lesions. Fibromatoses are histologically benign, but locally aggressive fibrous tumors consisting of mature fibroblasts within an extensive collagen matrix. Most cases are sporadic, but there is a clear association with familial adenomatous polyposis and GS, suggesting a link with a mutation of the APC gene on chromosome 5q22. Fibromatosis occurs in 3.5%-29% of patients with GS, and is more likely to be multiple and to involve the mesentery and abdominal wall rather than being an isolated form. Clinically, fibromatosis presents as a painless firm soft tissue mass. Most cases of fibromatosis are believed to be precipitated by surgical trauma, however, a few cases of spontaneous occurrence have been reported. In our patient, no history of abdominal surgery or trauma was present. In addition, an abdominal CT obtained 2 years ago revealed no abnormality. Although the radiological features of fibromatosis on CT or MR have been described in the literature, F 18 FDG PET or PET/CT findings are rarely reported. The F 18 FDG uptake in patients with fibromatosis ranged from low to moderate grade and was generally heterogenous with a few tiny foci of relatively intense uptake or relatively homogenous. The areas of higher FDG metabolism are likely to represent more cellular and mitotically active areas. Mesenteric fibromatosis has similar findings to extra abdominal lesions.

  11. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  12. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  13. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  14. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  15. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  16. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  17. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network...... of birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  18. [Serotonin syndrome].

    Science.gov (United States)

    Lheureux, P; Penaloza, A; De Cottenier, V; Ullmann, U; Gris, M

    2002-10-01

    The serotonin syndrome is a hyperserotoninergic state resulting from an excess of intrasynaptic 5-hydroxytryptamine, induced by multiple psychotropic agents, but also non psychiatric drugs. It is a potentially dangerous and sometimes lethal condition. The clinical manifestations usually include cognitive, neuromuscular and autonomic features and are mediated by the action of serotonin on various subtypes of receptors. The main differential diagnosis is the neuroleptic malignant syndrome. Treatment is mainly supportive. No pharmacological agent has been definitely demonstrated really effective. However, reports of cases treated with the 5-HT2 blockers, including cyproheptadine or chlorpromazine have suggested that these agents could have some efficacy. Serotonin syndrome is a toxic condition which requires heightened clinical awareness among physicians in order to prevent, recognize, and treat the condition promptly.

  19. [Autoinflammatory syndromes].

    Science.gov (United States)

    Gomes, José Melo; Gomes, Sónia Melo; Conde, Marta

    2010-01-01

    Autoinflammatory syndromes (AIS) are a heterogeneous group of congenital diseases characterized by the presence of recurrent episodes of fever and local or generalized inflammation, in the absence of infectious agents, detectable auto-antibodies or antigen-specific autoreactive T-cells. These diseases have been much better understood during the past 15 years, mainly due to the marked advances of the Human Genoma Project and its implications in the identification and characterization of genetic mutations. In this paper we make a revision of the classification of AIS and focus our attention specially on the cryopyrin-associated periodic syndromes (CAPS), in particular the CINCA syndrome that shares many clinical characteristics with juvenile idiopathic arthritis.

  20. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  1. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  2. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  3. [PFAPA syndrome].

    Science.gov (United States)

    André, Suzete Costa Anjos; Vales, Fernando; Cardoso, Eduardo; Santos, Margarida

    2009-01-01

    PFAPA syndrome is characterized by periodic fever, pharyngitis, cervical adenitis and aphthous stomatitis. The bouts of fever can last for days or even weeks. Between crises, patients remain asymptomatic for variable periods. It appears before the age of five and has limited duration (4-8 years). Its aetiopathogeny is unknown. Corticoids are the treatment of choice. Tonsillectomy has been proposed as a solution but remains controversial. We present the case of a 4-year-old girl with PFAPA syndrome who underwent tonsillectomy in January, 2008, and we review the literature.

  4. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  5. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right......-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato...

  6. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  7. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  8. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  9. [Wilkie's syndrome].

    Science.gov (United States)

    Bognár, Gábor; Ledniczky, György; Palik, Eva; Zubek, László; Sugár, István; Ondrejka, Pál

    2008-10-01

    Loss of retroperitoneal fatty tissue as a result of a variety of debilitating conditions and noxa is believed to be the etiologic factor of superior mesenteric artery syndrome. A case of a 35 years old female patient with severe malnutrition and weight loss is presented, who developed superior mesenteric artery syndrome. Various theories of etiology, clinical course and treatment options of this uncommon disease are discussed. In our case, conservative management was inefficient, while surgical treatment aiming to bypass the obstruction by an anastomosis between the jejunum and the proximal duodenum (duodenojejunostomy) was successful. An interdisciplinary teamwork provides the most beneficial diagnostic and therapeutic result in this often underestimated disease.

  10. Morbihan syndrome.

    Science.gov (United States)

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

    2013-04-01

    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks).

  11. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  12. Hyperthermia-triggered intracellular delivery of anticancer agent to HER2(+) cells by HER2-specific affibody (ZHER2-GS-Cys)-conjugated thermosensitive liposomes (HER2(+) affisomes).

    Science.gov (United States)

    Smith, Brandon; Lyakhov, Ilya; Loomis, Kristin; Needle, Danielle; Baxa, Ulrich; Yavlovich, Amichai; Capala, Jacek; Blumenthal, Robert; Puri, Anu

    2011-07-30

    We previously reported the formulation and physical properties of HER2 (human epidermal growth factor receptor 2)-specific affibody (ZHER2:342-Cys) conjugated thermosensitive liposomes (HER2(+)affisomes). Here we examined localized delivery potential of these affisomes by monitoring cellular interactions, intracellular uptake, and hyperthermia-induced effects on drug delivery. We modified ZHER2:342-Cys by introducing a glycine-serine spacer before the C-terminus cysteine (called ZHER2-GS-Cys) to achieve accessibility to cell surface expressed HER2. This modification did not affect HER2-specific binding and ZHER2-GS-Cys retained its ability to conjugate to the liposomes containing dipalmitoyl phosphatidyl choline: DSPE-PEG2000-Malemide, 96:04 mole ratios (HER2(+)affisomes). HER2(+)affisomes were either (i) fluorescently labeled with rhodamine-PE and calcein or (ii) loaded with an anticancer drug doxorubicin (DOX). Fluorescently labeled HER2(+) affisomes showed at least 10-fold increase in binding to HER2(+) cells (SK-BR-3) when compared to HER2(-) cells (MDA-MB-468) at 37°C. A competition experiment using free ZHER2-GS-Cys blocked HER2(+) affisome-SK-BR-3 cell associations. Imaging with confocal microscopy showed that HER2(+) affisomes accumulated in the cytosol of SK-BR-3 cells at 37°C. Hyperthermia-induced intracellular release experiments showed that the treatment of HER2(+) affisome/SK-BR-3 cell complexes with a 45°C (±1°C) pre-equilibrated buffer resulted in cytosolic delivery of calcein. Substantial calcein release was observed within 20min at 45°C, with no effect on cell viability under these conditions. Similarly, DOX-loaded HER2(+)affisomes showed at least 2- to 3-fold higher accumulation of DOX in SK-BR-3 cells as compared to control liposomes. DOX-mediated cytotoxicity was more pronounced in SK-BR-3 cells especially at lower doses of HER2(+)affisomes. Brief exposure of liposome-cell complexes at 45°C prior to the onset of incubations for cell

  13. A high cell density transient transfection system for therapeutic protein expression based on a CHO GS-knockout cell line: process development and product quality assessment.

    Science.gov (United States)

    Rajendra, Yashas; Hougland, Maria D; Alam, Riazul; Morehead, Teresa A; Barnard, Gavin C

    2015-05-01

    Transient gene expression (TGE) is a rapid method for the production of recombinant proteins in mammalian cells. While the volumetric productivity of TGE has improved significantly over the past decade, most methods involve extensive cell line engineering and plasmid vector optimization in addition to long fed batch cultures lasting up to 21 days. Our colleagues have recently reported the development of a CHO K1SV GS-KO host cell line. By creating a bi-allelic glutamine synthetase knock out of the original CHOK1SV host cell line, they were able to improve the efficiency of generating high producing stable CHO lines for drug product manufacturing. We developed a TGE method using the same CHO K1SV GS-KO host cell line without any further cell line engineering. We also refrained from performing plasmid vector engineering. Our objective was to setup a TGE process to mimic protein quality attributes obtained from stable CHO cell line. Polyethyleneimine (PEI)-mediated transfections were performed at high cell density (4 × 10(6) cells/mL) followed by immediate growth arrest at 32 °C for 7 days. Optimizing DNA and PEI concentrations proved to be important. Interestingly, found the direct transfection method (where DNA and PEI were added sequentially) to be superior to the more common indirect method (where DNA and PEI are first pre-complexed). Moreover, the addition of a single feed solution and a polar solvent (N,N dimethylacetamide) significantly increased product titers. The scalability of process from 2 mL to 2 L was demonstrated using multiple proteins and multiple expression volumes. Using this simple, short, 7-day TGE process, we were able to successfully produce 54 unique proteins in a fraction of the time that would have been required to produce the respective stable CHO cell lines. The list of 54 unique proteins includes mAbs, bispecific antibodies, and Fc-fusion proteins. Antibody titers of up to 350 mg/L were achieved with the simple 7-day process. Titers

  14. Epidemiology and Heritability of Major Depressive Disorder, Stratified by Age of Onset, Sex, and Illness Course in Generation Scotland: Scottish Family Health Study (GS:SFHS.

    Directory of Open Access Journals (Sweden)

    Ana Maria Fernandez-Pujals

    Full Text Available The heritability of Major Depressive Disorder (MDD has been estimated at 37% based largely on twin studies that rely on contested assumptions. More recently, the heritability of MDD has been estimated on large populations from registries such as the Swedish, Finnish, and Chinese cohorts. Family-based designs utilise a number of different relationships and provide an alternative means of estimating heritability. Generation Scotland: Scottish Family Health Study (GS:SFHS is a large (n = 20,198, family-based population study designed to identify the genetic determinants of common diseases, including Major Depressive Disorder. Two thousand seven hundred and six individuals were SCID diagnosed with MDD, 13.5% of the cohort, from which we inferred a population prevalence of 12.2% (95% credible interval: 11.4% to 13.1%. Increased risk of MDD was associated with being female, unemployed due to a disability, current smokers, former drinkers, and living in areas of greater social deprivation. The heritability of MDD in GS:SFHS was between 28% and 44%, estimated from a pedigree model. The genetic correlation of MDD between sexes, age of onset, and illness course were examined and showed strong genetic correlations. The genetic correlation between males and females with MDD was 0.75 (0.43 to 0.99; between earlier (≤ age 40 and later (> age 40 onset was 0.85 (0.66 to 0.98; and between single and recurrent episodic illness course was 0.87 (0.72 to 0.98. We found that the heritability of recurrent MDD illness course was significantly greater than the heritability of single MDD illness course. The study confirms a moderate genetic contribution to depression, with a small contribution of the common family environment (variance proportion = 0.07, CI: 0.01 to 0.15, and supports the relationship of MDD with previously identified risk factors. This study did not find robust support for genetic differences in MDD due to sex, age of onset, or illness course. However

  15. Virus-induced gene-silencing in wheat spikes and grains and its application in functional analysis of HMW-GS-encoding genes

    Directory of Open Access Journals (Sweden)

    Ma Meng

    2012-08-01

    Full Text Available Abstract Background The Barley stripe mosaic virus (BSMV-based vector has been developed and used for gene silencing in barley and wheat seedlings to assess gene functions in pathogen- or insect-resistance, but conditions for gene silencing in spikes and grains have not been evaluated. In this study, we explored the feasibility of using BSMV for gene silencing in wheat spikes or grains. Results Apparent photobleaching on the spikes infected with BSMV:PDS at heading stage was observed after13 days post inoculation (dpi, and persisted until 30dpi, while the spikes inoculated with BSMV:00 remained green during the same period. Grains of BSMV:PDS infected spikes also exhibited photobleaching. Molecular analysis indicated that photobleached spikes or grains resulted from the reduction of endogenous PDS transcript abundances, suggesting that BSMV:PDS was able to induce PDS silencing in wheat spikes and grains. Inoculation onto wheat spikes from heading to flowering stage was optimal for efficient silencing of PDS in wheat spikes. Furthermore, we used the BSMV-based system to reduce the transcript level of 1Bx14, a gene encoding for High-molecular-weight glutenin subunit 1Bx14 (HMW-GS 1Bx14, by 97 % in the grains of the BSMV:1Bx14 infected spikes at 15dpi, compared with that in BSMV:00 infected spikes, and the reduction persisted until at least 25 dpi. The amount of the HMW-GS 1Bx14 was also detectably decreased. The percentage of glutenin macropolymeric proteins in total proteins was significantly reduced in the grains of 1Bx14-silenced plants as compared with that in the grains of BSMV:00 infected control plants, indicating that HMW-GS 1Bx14 is one of major components participating in the formation of glutenin macropolymers in wheat grains. Conclusion This is one of the first reports of successful application of BSMV-based virus-induced-gene-silencing (VIGS for gene knockdown in wheat spikes and grains and its application in functional analysis of

  16. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  17. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome. Althou

  18. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  19. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    /or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  20. Dumping Syndrome

    Science.gov (United States)

    ... stomach move to your small intestine in an uncontrolled, abnormally fast manner. This is most often related to changes in your stomach associated with surgery. Dumping syndrome can occur after any stomach operation or removal of the esophagus (esophagectomy). Gastric bypass surgery for ...

  1. Brugada Syndrome

    Science.gov (United States)

    ... to look at your heart's electrical activity (electrophysiology study), you'll need to fast for eight to 12 hours before your test. Write down any symptoms you're experiencing, including any that may seem unrelated to Brugada syndrome. Write down key personal information, especially any family ...

  2. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

  3. Chylomicronemia syndrome

    Science.gov (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  4. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  5. [Waardenburg's syndrome].

    Science.gov (United States)

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  6. Waardenburg's syndrome.

    Science.gov (United States)

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P

    1995-01-01

    Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg's syndrome Type I was made in the children with the father probably representing a forme fruste of the condition.

  7. Caplan syndrome

    Science.gov (United States)

    ... CT scan of the chest Joint x-rays Pulmonary function tests Rheumatoid factor test and other blood tests Treatment There is no specific treatment for Caplan syndrome, other than treating any lung and joint disease. ... MD, MHS, Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, ...

  8. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  9. Sotos Syndrome

    Science.gov (United States)

    ... 663-4637) Sotos Syndrome Support Association P.O. Box 4626 Wheaton IL Wheaton, IL 60189 info@sotossyndrome.org http://www.sotossyndrome.org/ Tel: 888-246-7772 The Arc of the United States 1825 K Street, NW ...

  10. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  11. Reifenstein syndrome

    Science.gov (United States)

    Androgens are most important during early development in the womb. People with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals ...

  12. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  13. [SAPHO syndrome].

    Science.gov (United States)

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

    2014-10-01

    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  14. Compartment syndromes

    Institute of Scientific and Technical Information of China (English)

    Aly Saber

    2014-01-01

    Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss.Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes.Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma.As the intracranial contents are confined within a rigid bony cage, any increase in volume within thiscompartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume.Limb compartment syndromes may present either in acute or chronic clinical forms.Intra-abdominal pressure can be measured by direct or indirect methods.While the direct methods are quite accurate, theyare impractical and not feasible for routine practice.Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder.Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement.The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  15. Optimization of cell line development in the GS-CHO expression system using a high-throughput, single cell-based clone selection system.

    Science.gov (United States)

    Nakamura, Tsuyoshi; Omasa, Takeshi

    2015-09-01

    Therapeutic antibodies are commonly produced by high-expressing, clonal and recombinant Chinese hamster ovary (CHO) cell lines. Currently, CHO cells dominate as a commercial production host because of their ease of use, established regulatory track record, and safety profile. CHO-K1SV is a suspension, protein-free-adapted CHO-K1-derived cell line employing the glutamine synthetase (GS) gene expression system (GS-CHO expression system). The selection of high-producing mammalian cell lines is a crucial step in process development for the production of therapeutic antibodies. In general, cloning by the limiting dilution method is used to isolate high-producing monoclonal CHO cells. However, the limiting dilution method is time consuming and has a low probability of monoclonality. To minimize the duration and increase the probability of obtaining high-producing clones with high monoclonality, an automated single cell-based clone selector, the ClonePix FL system, is available. In this study, we applied the high-throughput ClonePix FL system for cell line development using CHO-K1SV cells and investigated efficient conditions for single cell-based clone selection. CHO-K1SV cell growth at the pre-picking stage was improved by optimizing the formulation of semi-solid medium. The efficiency of picking and cell growth at the post-picking stage was improved by optimization of the plating time without decreasing the diversity of clones. The conditions for selection, including the medium formulation, were the most important factors for the single cell-based clone selection system to construct a high-producing CHO cell line.

  16. Gitelman's syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis.

    Science.gov (United States)

    Gandhi, Kunal; Prasad, Dharmendra; Malhotra, Vinay; Agrawal, Dhananjai

    2016-01-01

    Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic tetany as a presentation of Gitelman's syndrome has rarely been reported in literature. We report a rare case of Gitelman's syndrome presenting with hypocalcemic tetany along with hypokalemic periodic paralysis. A 17-year-old female was admitted to our hospital with a history of perioral numbness and carpal spasms of five days duration with progressive quadriparesis developing over a period of few hours. Past history was significant for three episodes of transient lower limb weakness. On examination, blood pressure was 110/70 mm Hg. Chvostek's sign and Trousseau's sign were positive. Neurologically, she was fully oriented. She had Grade 3 power in all the four limbs with intact sensation. Laboratory tests showed hypocalcemia (7.8 mg/dL), hypokalemia (2.2 mEq/L), hypomagnesemia (0.9 mEq/L), and hypocalciuria (104 mg/day). Arterial blood gas showed mild metabolic alkalosis with respiratory compensation. Thus, a clinical diagnosis of GS was made. The patient made a remarkable recovery after the correction of electrolyte imbalance. The aim of this case report is to re-emphasize the fact that hypocalcemia can rarely occur in Gitelman's syndrome.

  17. Outcomes of patients with Goodpasture syndrome: A nationwide cohort-based study from the French Society of Hemapheresis.

    Science.gov (United States)

    Huart, Antoine; Josse, Anne-Gaëlle; Chauveau, Dominique; Korach, Jean-Michel; Heshmati, Farhad; Bauvin, Eric; Cointault, Olivier; Kamar, Nassim; Ribes, David; Pourrat, Jacques; Faguer, Stanislas

    2016-09-01

    The overall and renal outcomes of patients with Goodpasture syndrome (GS), a rare autoimmune disorder characterized by circulating anti-GBM antibodies and rapidly progressive glomerulonephritis and/or pulmonary hemorrhage, have mostly been reported in small-sized cohorts or by aggregating patients receiving a variety of therapies that include aggressive (i.e., combined plasma exchanges, corticosteroids, and cyclophosphamide) and less aggressive (i.e., either plasma exchanges or immunosuppressive drugs, or no treatment). To address the prognosis of GS patients with relatively homogeneous management including plasma exchanges, we conducted a multicenter retrospective study on GS patients included in the registry of the French Society of Hemapheresis. 122 patients were included (kidney alone (n = 28), lung alone (n = 5), or combined involvement (n = 89)). All 122 patients received plasma exchanges (median number of sessions: 13 [9-17]), either alone (n = 8) or associated with combined corticosteroids and oral or IV cyclophosphamide (n = 101) or with corticosteroids alone (n = 12) or cyclophosphamide alone (n = 2). One-year survival was 86.9%. 7/16 patients died from severe infection. In multivariate analyses (Cox's regression model), being aged <60 years, and number of plasma exchanges were correlated to overall survival. The use of alternative immunosuppressive drugs (because of refractory or relapsing GS) was correlated to mortality at one year. Superiority of oral cyclophosphamide compared to intravenous intake was close to significant. Using a logistic regression model, renal survival in patients alive at 1 year was only predicted by serum creatinine <500 μmol/L at presentation. This large series describes the predictive factors for overall and renal survival of GS patients treated by plasma exchanges. Interventional studies that compare oral and intravenous cyclophosphamide, as well as testing new immunosuppressive therapies, are warranted

  18. Down Syndrome: Education

    Science.gov (United States)

    ... leading human rights organization for all individuals with Down syndrome. National Down Syndrome Society 8 E 41st Street, 8th Floor New ... New York 10017 800-221-4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & ...

  19. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... Where can I find more information regarding Down Syndrome? National Down Syndrome Society VISIT SITE » Downs Syndrome Association VISIT ...

  20. Sexuality and Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Shop NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self-esteem, ...

  1. Reseña: Abal Oliú, Alejandro: C.G.P. y conciliación previa en materia laboral, Editorial Universidad Ltda. Montevideo, 1992, 64 págs.

    Directory of Open Access Journals (Sweden)

    o. C. R.

    2015-10-01

    Full Text Available Abal Oliú, Alejandro: C.G.P. y conciliación previa en materia laboral, Editorial Universidad Ltda. Montevideo, 1992, 64 págs. Editorial Universidad Ltda. Montevideo, 1992, 64 págs.El autor, profesor de Derecho Procesal y de Técnica Forense en nuestra Facultad, analiza en la presente obra las distintas fórmulas que es posible estab~ecer en cuanto a la tentativa de conciliación previa a la iniciación de los procesos laborales, luego de la entrada en vigencia del Código General del Proceso. (...

  2. Comparison of the effect of the GABAB receptor agonist, baclofen, and the positive allosteric modulator of the GABAB receptor, GS39783, on alcohol self-administration in three different lines of alcohol-preferring rats

    Science.gov (United States)

    Maccioni, Paola; Zaru, Alessandro; Loi, Barbara; Lobina, Carla; Carai, Mauro A.M.; Gessa, Gian Luigi; Capra, Alessandro; Mugnaini, Claudia; Pasquini, Serena; Corelli, Federico; Hyytiä, Petri; Lumeng, Lawrence; Colombo, Giancarlo

    2012-01-01

    Background Administration of the GABAB receptor agonist, baclofen, and positive allosteric modulator (PAM), GS39783, has been repeatedly reported to suppress multiple alcohol-related behaviors, including operant oral alcohol self-administration, in rats. The present study was designed to compare the effect of baclofen and GS39783 on alcohol self-administration in three lines of selectively bred, alcohol-preferring rats: Indiana alcohol-preferring (P), Sardinian alcohol-preferring (sP), and Alko Alcohol (AA). Methods Rats of each line were initially trained to respond on a lever, on a fixed ratio (FR) 4 (FR4) schedule of reinforcement, to orally self-administer alcohol (15%, v/v) in daily 30-min sessions. Once responding reached stable levels, rats were exposed to a sequence of experiments testing baclofen (0, 1, 1.7, and 3 mg/kg; i.p.) and GS39783 (0, 25, 50, and 100 mg/kg; i.g.) on FR4 and progressive ratio (PR) schedules of reinforcement. Finally, to assess the specificity of baclofen and GS39783 action, rats were slightly food-deprived and trained to lever-respond for food pellets. Results The rank of order of the reinforcing and motivational properties of alcohol was: P>sP>AA rats. Under both FR and PR schedules of reinforcement, the rank of order of potency and efficacy of baclofen and GS39783 in suppressing alcohol self-administration was: P>sP>AA rats. Only the highest dose of baclofen reduced lever-responding for food pellets; this effect was common to all three rat lines. Conversely, no dose of GS39783 altered lever-responding for food in any rat line. Conclusions These results suggest that: (a) the strength of the reinforcing and motivational properties of alcohol differ among P, sP, and AA rats; (b) the reinforcing and motivational properties of alcohol in P, sP, and AA rats are differentially sensitive to treatment with baclofen and GS39783; (c) the heterogeneity in sensitivity to baclofen and GS39783 of alcohol self-administration in P, sP, and AA rats

  3. 樱桃叶片气孔导度动态模拟研究%Study on Dynamic Simulation of Stomatal Conductance( Gs ) of Cherry(Prunus avium L.' Hongdeng' ) Leaf

    Institute of Scientific and Technical Information of China (English)

    高照全; 赵晨霞; 冯社章; 程建军

    2012-01-01

    [ Objective] The aim was to simulate the dynamic change law of cherry leaf s Gs under different weather by Gs model. [ Method] The experiment was conducted in a ' Hongdeng' cherry orchard. The parameters of the model were tested by the data observed in upper canopy from 2008 to 2011 during the growing seasons. [ Result] The diurnal course of Gs showed a double-peak curve on sunny days. And it reached the first peak of 240 mmol/(m2 · S) at mid-morning about 08:00 and the second at mid-afternoon about 16:00. The decline of Gs at noon was caused by lower RH and ψt. During a whole day (12 h) , average Gs was about 154. 36 mmol/( m2 · S) on sunny day. [ Conclusion] The study provides a scientific basis for using Gs model to simulate Gs of fruit tree leaf under different weather.%[目的]利用气孔导度(Gs)模型模拟红灯樱桃(Prunus avium L.‘Hongdeng’)叶片G,在不同气象条件下的动态变化规律.[方法]于2008~2011年在红灯樱桃园中,利用树冠上层叶片气体交换数据拟合相应参数.[结果]在晴天,樱桃上层叶片Gs呈双峰曲线,最大峰值出现在08:00左右,约240 mmol/( m2·s);第2峰值在16:00,气孔的“午休”现象主要与中午较低的RH和ψ1有关.晴天时,一天当中Gs的平均值为154.36 mmol/( m2·s).[结论]该研究为采用Gs模型来模拟不同气象条件下果树叶片G1提供了科学依据.

  4. Perform data envelopment analysis in MS Excel based on models of C2R and C2GS2%Excel VBA基于C2R和C2GS2模型实现数据包络分析的方法

    Institute of Scientific and Technical Information of China (English)

    章燕丽; 李显文; 高越明; 吕旭东

    2008-01-01

    数据包络分析用来评价具有多输入、多输出的决策单元之间的相对有效性.本文基于两个DEA数学模型C2R和C2GS2的等价线性规划模型,利用Fxcel 2003强大的数字处理分析功能并结合其线性规划求解工具,运用Excel VBA语言实现了一种使用简单方便的DEA分析方法.

  5. 低氮条件下木薯谷氨酰胺合成酶(GS)酶活及GS家族基因表达分析%Enzyme Activity and Expression Analysis of Glutamine Synthetase GS Gene in Cassava under Low-nitrogen Stress

    Institute of Scientific and Technical Information of China (English)

    肖急祥; 曾长英; 彭明

    2016-01-01

    谷氨酰胺合成酶(GS)是植物氮代谢中的关键酶,在氨同化和谷氨酰胺生物合成中起着重要的作用.木薯中谷氨酰胺合成酶基因家族有四个基因,分别是细胞质型cassava4.1_008086m (MeG S1.1),cassava4.1_010581m (MeGS1.2),cassava4.1_010597m (MeGS1.3)和叶绿体型cassava4.1_008019m (MeGS2).实验采用qRT-PCR技术分析铵盐和硝酸盐两种不同的氮源低氮胁迫下耐低氮品种(双高CH16)和低氮敏感型品种(双低G16) GS基因的表达差异.结果表明,在低铵盐氮源处理下木薯两类品种的GS酶活在叶中要高于正常氮源处理,根中低于正常氮源处理,而低硝酸盐氮源处理下木薯两类品种的GS酶活在叶和根中要低于正常氮源.在不同低氮源处理下,两类材料叶绿体型GS表达量在叶中始终与GS酶活存在相反现象.因此,推测木薯叶片中叶绿体型GS表达量可能与GS酶活呈负相关关系.而细胞质型GS表达量差异较大,与叶绿体型GS共同影响GS酶活,影响着木薯的氮利用效率.

  6. Clinical and endoscopic assessment of gastric state in systemic lupus erythematosus and antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    I. A. Doroshkevich

    2004-01-01

    Full Text Available Objective. To characterize gastric mucosa (GM state in systemic lupus erythematosus (SLE and antiphospholipid syndrome (APS. Material and methods. Gastroscopy (GS with GM biopsy and histological examination was performed in 85 pts (65 with SLE and 20 with primary APS. 26 from 65 pts with SLE had secondary APS. 21 SLE pt before inclusion did not receive glucocorticoids (GC. H. pylory and its cytotoxicity gen CagA, HSV-I, CMV were examined in GM samples with PCR. Results. The most frequent GS-feature in pts with SLE and ARS was antral gastritis (82%. In 25% of pts erosions and in 8% - hemorrhages of GM were present. Erosions localized mostly in stomach (25%, in 7% of cases they were present in duodenum. In APS pts epigastric pain and GM erosions were more frequent than in SLE without APS. H.pylory in GM was revealed in 70-81%. In 42% of pts it was present in combination with HSV-1 and/or CMV. In more than half of pts with antral gastritis and GM erosions revealed H. pylory was CagA-positive. GC therapy did not influence frequency of GM erosions and hemorrhages formation. Conclusion. The most frequent GS-features in pts with SLE and ARS were antral gastritis and GM erosions. Epigastric pain and GM erosions were more frequent in pts with APS.

  7. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

    Science.gov (United States)

    Glaudemans, Bob; Yntema, Helger G; San-Cristobal, Pedro; Schoots, Jeroen; Pfundt, Rolph; Kamsteeg, Erik-J; Bindels, René J; Knoers, Nine V A M; Hoenderop, Joost G; Hoefsloot, Lies H

    2012-03-01

    Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis in conjunction with significant hypomagnesemia and hypocalciuria. The GS phenotype is caused by mutations in the solute carrier family 12, member 3 (SLC12A3) gene that encodes the thiazide-sensitive NaCl cotransporter (NCC). We analyzed DNA samples of 163 patients with a clinical suspicion of GS by direct sequencing of all 26 exons of the SLC12A3 gene. In total, 114 different mutations were identified, 31 of which have not been reported before. These novel variants include 3 deletions, 18 missense, 6 splice site and 4 nonsense mutations. We selected seven missense mutations to investigate their effect on NCC activity and plasma membrane localization by using the Xenopus laevis oocyte expression system. The Thr392Ile mutant did not display transport activity (probably class 2 mutation), while the Asn442Ser and Gln1030Arg NCC mutants showed decreased plasma membrane localization and consequently function, likely due to impaired trafficking (class 3 mutation). Even though the NaCl uptake was hampered for NCC mutants Glu121Asp, Pro751Leu, Ser475Cys and Tyr489His, the transporters reached the plasma membrane (class 4 mutation), suggesting an effect on NCC regulation or ion affinity. The present study shows the identification of 38 novel mutations in the SLC12A3 gene and provides insight into the mechanisms that regulate NCC.

  8. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès

    2006-03-01

    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  9. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and...... necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...

  10. Dravet syndrome

    Directory of Open Access Journals (Sweden)

    Incorpora Gemma

    2009-09-01

    Full Text Available Abstract "Dravet syndrome" (DS previously named severe myoclonic epilepsy of infancy (SMEI, or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy. DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized, which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders. Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+.

  11. Antiphospholipid syndrome.

    Science.gov (United States)

    Cervera, Ricard

    2017-03-01

    The antiphospholipid syndrome (APS) is defined by the development of venous and/or arterial thromboses, often multiple, and pregnancy morbidity (mainly, recurrent fetal losses), in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity. Currently, there is consensus in treating APS patients with thrombosis with long-term oral anticoagulation and to prevent obstetric manifestations with the use of aspirin and heparin. This review summarizes the main knowledge on the clinical and therapeutic aspects of this syndrome. © 2017 Elsevier Ltd. All rights reserved.

  12. Parinaud's syndrome.

    Science.gov (United States)

    Moffie, D; Ongerboer de Visser, B W; Stefanko, S Z

    1983-02-01

    Five cases of a tumour in the quadrigeminal area have been described, 4 of which could be verified by autopsy. In 2 cases with a metastasis in the tegmentum of the mesencephalon, a Parinaud syndrome was present. In 2 other cases, however, with extensive destruction of the quadrigeminal plate and of the posterior commissure this syndrome was not present. In the 5th case, with a big vascular tumour of the pineal area, disturbances of eye movements and pupils were also lacking. From these observations we may conclude that (1) destruction of the quadrigeminal plate has no influence upon vertical eye movements. (2) destruction of the posterior commissure, in combination with the quadrigeminal plate, is not always followed by disturbances of vertical eye movements. In man it is still not clear which structures are responsible for the performance of vertical eye movements.

  13. Apert syndrome

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    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  14. Paraneoplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy; and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.

  15. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  16. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  17. Postconcussional Syndrome

    OpenAIRE

    Necla Keskin; Lut Tamam

    2013-01-01

    Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral) symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method f...

  18. Fraser syndrome.

    Directory of Open Access Journals (Sweden)

    Chattopadhyay A

    1993-10-01

    Full Text Available Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

  19. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  20. Gerstmann's syndrome.

    OpenAIRE

    Sukumar, S.; Ferguson, G C

    1996-01-01

    Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude that clinical examination still has a valuable role in neurology, despite the availability of excellent imaging techniques.