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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. Genetics Home Reference: Griscelli syndrome

    Science.gov (United States)

    ... Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect ( ... N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G. Mutations in RAB27A ... syndrome associated with haemophagocytic syndrome. Nat Genet. 2000 Jun; ...

  3. 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

  4. 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.

  5. 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 syndromes...

  6. 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 weaknes...

  7. Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature

    Science.gov (United States)

    Sefsafi, Zakia; Hasbaoui, Brahim El; Kili, Amina; Agadr, Aomar; Khattab, Mohammed

    2018-01-01

    macrophages with haemophagocytic activity that comforting the diagnosis of a SAM according to Ravelli and HLH-2004 criteria. Griscelli syndrome (GS) was evoked on; consanguineous family, recurrent infection, very light silvery-gray color of the hair and eyebrows, Light microscopy examination of the hair showed large, irregular clumps of pigments characteristic of GS. The molecular biology showed mutation in RAB27A gene confirming the diagnosis of a Griscelli syndrome type 2. The first-line therapy was based on the parenteral administration of high doses of corticosteroids, associated with immunosuppressive drugs, cyclosporine A and etoposide waiting for bone marrow transplantation (BMT). PMID:29875956

  8. 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...

  9. 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

    The autosomal recessive Griscelli syndrome type II (GSII) is caused by mutations in the RAB27A gene. Typical clinical features include immunological impairment, silver-gray scalp hair, eyelashes and eyebrows and hypomelanosis of the skin. Rabs help determine the specificity of membrane trafficking......-immunoprecipitation studies showed that Rab27A(G43S) fails to interact with its effector Melanophilin, indicating that the switch I region functions in the recruitment of Rab effector proteins Udgivelsesdato: 2008/6...

  10. Case report 432: Granulocytic sarcoma (GS), with hypereosinophilic syndrome (HES)

    Energy Technology Data Exchange (ETDEWEB)

    Xipell, J M; Beamish, M R; Clark, D

    1987-07-01

    A case is presented of a 28-year-old man with a history of the hypereosinophilic syndrome, who subsequently developed granulocytic sarcoma of the tibia which proved resistant to aggressive therapy. He ultimately developed acute myeloid leukemia which also was resistant to therapy. The disease process was characterized by localised skeletal pain, the development of lytic lesions in several areas of the skeleton and progression to frank myeloid leukemia. (orig./SHA).

  11. 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.

  12. Light and scanning electron microscopic examination of hair in Garlic's syndrome

    International Nuclear Information System (INIS)

    Celik, Hakan H.; Tunali, S.; Tatar, I.; Aldur, Muhammad M.; Tore, H.

    2007-01-01

    Grisceli syndrome is a rare disease is a rare disease characterized by pigment dilution, partial albinism, variable cellular immunodeficiency and an acute phase of uncontrolled T-lymphocyte macrophage activation. Griscelli et al described this syndrome in 1978. Since then, only approximately, 60 cases have been reported, most from Turkish and Mediterranean population. In microscopic examination, silvery grey hair with large clumped melanosomes on the hair shaft is the diagnostic finding. Here, we present scanning electron microscopic study of hair in 2 cases of Griscelli syndrome where the hair showed normal cuticular pattern but nodular structures were present as an abnormal finding. (author)

  13. Object Tracking withIphone 3Gs

    OpenAIRE

    Alin, Lars

    2010-01-01

    In June of 2007 Apple Inc. released the smartphone Iphone. It was a groundbreaking success that set a new standard for what a smartphone should be able to do. Apple has improved the Iphone every year since then and the 3Gs is the newest Iphone model. As the phones have improved, both when looking at hardware and software, the applications have improved as well. The Iphone 3Gs provides the possibility to use the camera as an application background and with that the possibility to analyze the s...

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

    CERN Document Server

    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.

  15. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.

    Science.gov (United States)

    Matsunoshita, Natsuki; Nozu, Kandai; Shono, Akemi; Nozu, Yoshimi; Fu, Xue Jun; Morisada, Naoya; Kamiyoshi, Naohiro; Ohtsubo, Hiromi; Ninchoji, Takeshi; Minamikawa, Shogo; Yamamura, Tomohiko; Nakanishi, Koichi; Yoshikawa, Norishige; Shima, Yuko; Kaito, Hiroshi; Iijima, Kazumoto

    2016-02-01

    Phenotypic overlap exists among type III Bartter syndrome (BS), Gitelman syndrome (GS), and pseudo-BS/GS (p-BS/GS), which are clinically difficult to distinguish. We aimed to clarify the differences between these diseases, allowing accurate diagnosis based on their clinical features. A total of 163 patients with genetically defined type III BS (n = 30), GS (n = 90), and p-BS/GS (n = 43) were included. Age at diagnosis, sex, body mass index, estimated glomerular filtration rate, and serum and urine electrolyte concentrations were determined. Patients with p-BS/GS were significantly older at diagnosis than those with type III BS and GS. Patients with p-BS/GS included a significantly higher percentage of women and had a lower body mass index and estimated glomerular filtration rate than did patients with GS. Although hypomagnesemia and hypocalciuria were predominant biochemical findings in patients with GS, 17 and 23% of patients with type III BS and p-BS/GS, respectively, also showed these abnormalities. Of patients with type III BS, GS, and p-BS/GS, 40, 12, and 63%, respectively, presented with chronic kidney disease. This study clarified the clinical differences between BS, GS, and p-BS/GS for the first time, which will help clinicians establish differential diagnoses for these three conditions.

  16. 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...

  17. Swift observations of GS 1826-238

    Science.gov (United States)

    Ji, L.; Santangelo, A.; Zhang, S.; Ducci, L.; Suleimanov, V.

    2018-02-01

    GS 1826-238 is a well-studied low-mass X-ray binary neutron star. This source was in a persistent hard state since its discovery in 1988 and until 2014 June. After that, the source exhibited several softer periods of enhanced intensity in the energy range 2-20 keV. We studied the long-term light curves of MAXI (Monitor of All Sky X-ray Image) and Swift/BAT, and found clearly two branches in the MAXI-BAT and hardness-intensity diagrams, which correspond to the persistent state and softer periods, respectively. We analysed 21 Swift/XRT observations, of which four were located in the persistent state while the others were in softer periods or in a state between them. The XRT spectra could be generally fitted by using an absorbed Comptonization model with no other components required. We found a peculiar relationship between the luminosity and the hardness in the energy range of 0.6-10 keV: when the luminosity is larger (smaller) than 4 per cent-6 per cent Ledd, the hardness is anti-correlated (correlated) with luminosity. We also estimated the variability for each observation by using the fractional rms in the 0.1-10 Hz range. We found that the observations in the persistent state had a large fractional rms of ˜25 per cent, similar to other low-mass X-ray binaries. However, the variability is mainly found in the range of 5 per cent-20 per cent during softer periods. We suggest that GS 1826-238 did not evolve into the soft state of atoll sources, and all the observed XRT observations during the softer periods resemble a peculiar intermediate state of atoll sources.

  18. 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.

  19. 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...

  20. 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...

  1. Behind the scenes of GS: precious stones

    CERN Multimedia

    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...

  2. 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...

  3. Gilbert\\'s Syndrome

    Directory of Open Access Journals (Sweden)

    Erkan Cure

    2014-04-01

    Full Text Available Gilbert\\'s syndrome (GS is a benign condition that does not progress to chronic liver disease or fibrosis. GS diagnosis should be considered in patients with chronic elevation of unconjugated bilirubin. In these patients the presence of hemolysis and other diseases of the liver should be excluded. GS is an autosomal recessive disease. The mutation of UDP-glucuronyl transferase is seen in 10-16% of the population. There is a 70-80% decrease in bilirubin glucuronidation. In cases of unexplained indirect hyperbilirubinemia with no history of drugs, smoking or alcohol use, GS should be considered. Firstly, hemolysis should be excluded. It has been reported that having increased levels of indirect bilirubin lowers the incidence of carotid plaque and coronary artery disease in patients of GS. The antioxidation and resistance to oxidative stress status of patients with GS is known to be high. However, GS is associated with breast and colon cancer. Several studies have reported that liver transplantation from a patient with GS had no harm to himself or to the recipient. An exact relationship between schizophrenia and GS has not been demonstrated. GS patients have a risk of breast and colon cancer so frequent follow up may be recommended.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    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).

  5. 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.

  6. 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

  7. 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.

  8. 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

  9. 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...

  10. Genetics Home Reference: genitopatellar syndrome

    Science.gov (United States)

    ... hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Related Information How are genetic conditions and genes ... Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Genitopatellar syndrome: expanding the phenotype and excluding mutations ...

  11. Clenbuterol-Stimulated Glucose Uptake Activates both GS and GI ...

    African Journals Online (AJOL)

    β2-adrenoceptors activated by adrenaline can also couple to both Gs and Gi proteins. The former is associated with an increase in cAMP to illicit the effect of the catecholamine. In the later, β2-AR induces PKA-catalysed phosphorylation of the receptor, which intends couples to Gi, at high concentration. We proposed that ...

  12. 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).

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

    DEFF Research Database (Denmark)

    Biensø, Rasmus Sjørup

    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...

  14. 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...

  15. Test Report : GS Battery, EPC power HES RESCU

    Energy Technology Data Exchange (ETDEWEB)

    Rose, David Martin [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Schenkman, Benjamin L. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States); Borneo, Daniel R. [Sandia National Lab. (SNL-NM), Albuquerque, NM (United States)

    2013-10-01

    The Department of Energy Office of Electricity (DOE/OE), Sandia National Laboratories (SNL) and the Base Camp Integration Lab (BCIL) partnered together to incorporate an energy storage system into a microgrid configured Forward Operating Base to reduce the fossil fuel consumption and to ultimately save lives. Energy storage vendors will be sending their systems to SNL Energy Storage Test Pad (ESTP) for functional testing and then to the BCIL for performance evaluation. The technologies that will be tested are electro-chemical energy storage systems comprising of lead acid, lithium-ion or zinc-bromide. GS Battery and EPC Power have developed an energy storage system that utilizes zinc-bromide flow batteries to save fuel on a military microgrid. This report contains the testing results and some limited analysis of performance of the GS Battery, EPC Power HES RESCU.

  16. 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...

  17. Analogs of human genetic skin disease in domesticated animals

    Directory of Open Access Journals (Sweden)

    Justin Finch, MD

    2017-09-01

    The genetic skin diseases we will review are pigmentary mosaicism, piebaldism, albinism, Griscelli syndrome, ectodermal dysplasias, Waardenburg syndrome, and mucinosis in both humans and domesticated animals.

  18. Behind the scenes of GS: preventing and curing

    CERN Document Server

    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...

  19. 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. &...

  20. Operational reliability of the Point Lepreau GS standby generators

    Energy Technology Data Exchange (ETDEWEB)

    Loughead, D. A.; McGregor, A. T. [Safety and Compllance Group, New Brunswick Electric Power Commission, Point Lepreau Generating Station, P.O.Box 10 Lepreau, New Brunswick E0G 2H0 (Canada)

    1986-02-15

    Performance of the two Point Lepreau GS standby generators during the first three years of licensed station operation is reviewed. It is shown that the mandated reliability/availability requirements have been met. The nature of starting and running failures has been examined and the consequences, in terms of design and procedural changes, discussed. A brief review of standby generator outages is included to permit estimates of standby generator availability and total Class III standby power unavailability. A pair of simple equations is introduced as a means of estimating the probable economic penalty, both cumulative and incremental, associated with the running failure of one standby generator while the other is on a maintenance outage. (authors)

  1. Operational reliability of the Point Lepreau GS standby generators

    International Nuclear Information System (INIS)

    Loughead, D.A.; McGregor, A.T.

    1986-01-01

    Performance of the two Point Lepreau GS standby generators during the first three years of licensed station operation is reviewed. It is shown that the mandated reliability/availability requirements have been met. The nature of starting and running failures has been examined and the consequences, in terms of design and procedural changes, discussed. A brief review of standby generator outages is included to permit estimates of standby generator availability and total Class III standby power unavailability. A pair of simple equations is introduced as a means of estimating the probable economic penalty, both cumulative and incremental, associated with the running failure of one standby generator while the other is on a maintenance outage. (authors)

  2. GILBERT'S SYNDROME - A CONCEALED ADVERSITY FOR PHYSICIANS AND SURGEONS.

    Science.gov (United States)

    Rasool, Ahsan; Sabir, Sabir; Ashlaq, Muhammad; Farooq, Umer; Khan, Muhammad Zatmar; Khan, Faisal Yousaf

    2015-01-01

    Gilbert's syndrome (often abbreviated as GS) is most common hereditary cause of mild unconjugated (indirect) hyperbilirubinemia. Various studies have been published depicting clinical and pharmacological effects of Gilbert's syndrome (GS). However GS as a sign of precaution for physician and surgeons has not been clearly established. A systematic study of the available literature was done. Key words of Gilbert's syndrome, hyperbilirubinemia and clinical and pharmacological aspects of GS were searched using PubMed as search engine. Considering the study done in last 40 years, 375 articles were obtained and their abstracts were studied. The criterion for selecting the articles for through study was based on their close relevance with the topic. Thus 40 articles and 2 case reports were thoroughly studied. It was concluded that Gilbert's syndrome has immense clinical importance because the mild hyperbilirubinemia can be mistaken for a sign of occult, chronic, or progressive liver disease. GS is associated with lack of detoxification of few drugs. It is related with spherocytosis, cholithiasis, haemolytic anaemia, intra-operative toxicity, irinotecan toxicity, schizophrenia and problems in morphine metabolism. It also has profound phenotypic effect as well. The bilirubin level of a GS individual can rise abnormally high in various conditions in a person having Gilbert's syndrome. This can mislead the physicians and surgeons towards false diagnosis. Therefore proper diagnosis of GS should be ascertained in order to avoid the concealed adversities of this syndrome.

  3. Sialoscintigraphy, dacryoscintigraphy, and 67Ga-scintigraphy in SJOGREN's syndrome

    International Nuclear Information System (INIS)

    De Rossi, G.

    1988-01-01

    In 68 cases of SJOGREN's syndrome (SS) dacryoscintigraphy (DS), sialoscintigraphy (SIS), and 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. (orig.) [de

  4. 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

  5. Chimeric microbial rhodopsins for optical activation of Gs-proteins

    Science.gov (United States)

    Yoshida, Kazuho; Yamashita, Takahiro; Sasaki, Kengo; Inoue, Keiichi; Shichida, Yoshinori; Kandori, Hideki

    2017-01-01

    We previously showed that the chimeric proteins of microbial rhodopsins, such as light-driven proton pump bacteriorhodopsin (BR) and Gloeobacter rhodopsin (GR) that contain cytoplasmic loops of bovine rhodopsin, are able to activate Gt protein upon light absorption. These facts suggest similar protein structural changes in both the light-driven proton pump and animal rhodopsin. Here we report two trials to engineer chimeric rhodopsins, one for the inserted loop, and another for the microbial rhodopsin template. For the former, we successfully activated Gs protein by light through the incorporation of the cytoplasmic loop of β2-adrenergic receptor (β2AR). For the latter, we did not observe any G-protein activation for the light-driven sodium pump from Indibacter alkaliphilus (IndiR2) or a light-driven chloride pump halorhodopsin from Natronomonas pharaonis (NpHR), whereas the light-driven proton pump GR showed light-dependent G-protein activation. This fact suggests that a helix opening motion is common to G protein coupled receptor (GPCR) and GR, but not to IndiR2 and NpHR. Light-induced difference FTIR spectroscopy revealed similar structural changes between WT and the third loop chimera for each light-driven pump. A helical structural perturbation, which was largest for GR, was further enhanced in the chimera. We conclude that similar structural dynamics that occur on the cytoplasmic side of GPCR are needed to design chimeric microbial rhodopsins. PMID:29362703

  6. 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...

  7. 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...

  8. Behind the scenes of GS: keeping CERN clean

    CERN Document Server

    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...

  9. G-Protein α-Subunit Gsα Is Required for Craniofacial Morphogenesis.

    Directory of Open Access Journals (Sweden)

    Run Lei

    Full Text Available The heterotrimeric G protein subunit Gsα couples receptors to activate adenylyl cyclase and is required for the intracellular cAMP response and protein kinase A (PKA activation. Gsα is ubiquitously expressed in many cell types; however, the role of Gsα in neural crest cells (NCCs remains unclear. Here we report that NCCs-specific Gsα knockout mice die within hours after birth and exhibit dramatic craniofacial malformations, including hypoplastic maxilla and mandible, cleft palate and craniofacial skeleton defects. Histological and anatomical analysis reveal that the cleft palate in Gsα knockout mice is a secondary defect resulting from craniofacial skeleton deficiencies. In Gsα knockout mice, the morphologies of NCCs-derived cranial nerves are normal, but the development of dorsal root and sympathetic ganglia are impaired. Furthermore, loss of Gsα in NCCs does not affect cranial NCCs migration or cell proliferation, but significantly accelerate osteochondrogenic differentiation. Taken together, our study suggests that Gsα is required for neural crest cells-derived craniofacial development.

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

    DEFF Research Database (Denmark)

    Rasmussen, Søren Gøgsig Faarup; DeVree, Brian T; Zou, Yaozhong

    2011-01-01

    -occupied receptor. The β(2) adrenergic receptor (β(2)AR) 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 β(2)AR and nucleotide-free Gs...

  11. Gq and Gs signaling acting in synergy to control GLP-1 secretion

    DEFF Research Database (Denmark)

    Pedersen, Maria Hauge; Ekberg, Jeppe Hvidtfeldt; Engelstoft, Maja Storm

    2017-01-01

    GPR40 is generally known to signal through Gq. However, in transfected cells, certain synthetic agonists can make the receptor signal also through Gs and cAMP (Hauge et al., 2015). Here we find that, in colonic crypt cultures, the GLP-1 secretion induced by such Gq + Gs GPR40 agonists is indeed i...

  12. French language: A basic G.S course for Nnamdi Azikiwe University ...

    African Journals Online (AJOL)

    Descriptive method was adopted for the study and data were collected from articles, internet sources and interview. The finding indicated that some universities have adopted French as one of the GS courses. It suggested that French language be taught in UNIZIK as a GS course. The work was based on NUC benchmark ...

  13. Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome.

    Science.gov (United States)

    Matsunoshita, Natsuki; Nozu, Kandai; Yoshikane, Masahide; Kawaguchi, Azusa; Fujita, Naoya; Morisada, Naoya; Ishimori, Shingo; Yamamura, Tomohiko; Minamikawa, Shogo; Horinouchi, Tomoko; Nakanishi, Keita; Fujimura, Junya; Ninchoji, Takeshi; Morioka, Ichiro; Nagase, Hiroaki; Taniguchi-Ikeda, Mariko; Kaito, Hiroshi; Iijima, Kazumoto

    2018-05-30

    Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose based on their clinical presentation and require genetic tests for accurate diagnosis. In addition, p-BS/GS can occur as a result of other inherited diseases such as cystic fibrosis, autosomal dominant hypocalcemia, Dent disease, or congenital chloride diarrhea (CCD). However, the detection of the variants in genes other than known BS/GS-causing genes by conventional Sanger sequencing requires substantial time and resources. We studied 27 cases clinically diagnosed with BS/GS, but with negative genetic tests for known BS/GS genes. We conducted targeted sequencing for 22 genes including genes responsible for tubulopathies and other inherited diseases manifesting with p-BS/GS symptoms. We detected the SLC26A3 gene variants responsible for CCD in two patients. In Patient 1, we found the SLC26A3 compound heterozygous variants: c.354delC and c.1008insT. In Patient 2, we identified the compound heterozygous variants: c.877G > A, p.(Glu293Lys), and c.1008insT. Our results suggest that a comprehensive genetic screening system using targeted sequencing is useful for the diagnosis of patients with p-BS/GS with alternative genetic origins.

  14. Gs protein peptidomimetics as allosteric modulators of the β2-adrenergic receptor

    DEFF Research Database (Denmark)

    Boyhus, Lotte Emilie; Danielsen, Mia; Bengtson, Nina Smidt

    2018-01-01

    A series of Gs protein peptidomimetics were designed and synthesised based on the published X-ray crystal structure of the active state β2-Adrenergic receptor (β2AR) in complex with the Gs protein (PDB 3SN6). We hypothesised that such peptidomimetics may function as allosteric modulators...... that target the intracellular Gs protein binding site of the β2AR. Peptidomimetics were designed to mimic the 15 residue C-Terminal α-helix of the Gs protein and were pre-organised in a helical conformation by (i, i + 4)-stapling using copper catalysed azide alkyne cycloaddition. Linear and stapled...... be able to compete with the native Gs protein for the intracellular binding site to block ISO-induced cAMP formation, but are unable to stabilise an active-like receptor conformation....

  15. Summoning earth and fire: The energy development implications of Grameen Shakti (GS) in Bangladesh

    International Nuclear Information System (INIS)

    Sovacool, Benjamin K.; Drupady, Ira Martina

    2011-01-01

    Since its establishment in 1996, the nonprofit company Grameen Shakti (GS) has installed almost half a million solar home systems (SHS), 132,000 cookstoves, and 13,300 biogas plants among 3.1 million beneficiaries. They plan to ramp up their expansion so that by 2015, more than 1.5 million SHS are in place along with 100,000 biogas units and 5 million improved cookstoves. This article describes GS's current activities, the contours of its programs, and likely reasons for its success. It also explores the remaining challenges facing GS and distils common lessons for other energy development assistance projects and programs around the world. After detailing research methods consisting primarily of research interviews and site visits, the article briefly explores the history of GS and summarizes its three most prominent programs. The article then identifies six distinct benefits to their programs-expansion of energy access, less deforestation and fewer greenhouse gas emissions, price savings, direct employment and income generation, improved public health, and better technology-before discussing challenges related to staff retention and organizational growth, living standards, technical obstacles, affordability, tension with other energy programs, political constraints, and awareness and cultural values. -- Highlights: → Grameen Shakti (GS) has installed a large number of solar home systems (SHS), cookstoves, and biogas plants. → GS programs have brought a wide array of social and economic benefits. → GS programs face internal and external challenges if they are to remain successful.

  16. GS6, a member of the GRAS gene family, negatively regulates grain size in rice.

    Science.gov (United States)

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

    2013-10-01

    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 +348 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. © 2013 Institute of Botany, Chinese Academy of Sciences.

  17. Docosahexaenoic acid alters Gsα localization in lipid raft and potentiates adenylate cyclase.

    Science.gov (United States)

    Zhu, Zhuoran; Tan, Zhoubin; Li, Yan; Luo, Hongyan; Hu, Xinwu; Tang, Ming; Hescheler, Jürgen; Mu, Yangling; Zhang, Lanqiu

    2015-01-01

    Supplementation with docosahexaenoic acid (DHA), an ω-3 polyunsaturated fatty acid (PUFA), recently has become popular for the amelioration of depression; however the molecular mechanism of DHA action remains unclear. The aim of this study was to investigate the mechanism underlying the antidepressant effect of DHA by evaluating Gsα localization in lipid raft and the activity of adenylate cyclase in an in vitro glioma cell model. Lipid raft fractions from C6 glioma cells treated chronically with DHA were isolated by sucrose gradient ultracentrifugation. The content of Gsα in lipid raft was analyzed by immunoblotting and colocalization of Gsα with lipid raft was subjected to confocal microscopic analysis. The intracellular cyclic adenosine monophosphate (cAMP) level was determined by cAMP immunoassay kit. DHA decreased the amount of Gsα in lipid raft, whereas whole cell lysate Gsα was not changed. Confocal microscopic analysis demonstrated that colocalization of Gsα with lipid raft was decreased, whereas DHA increased intracellular cAMP accumulation in a dose-dependent manner. Interestingly, we found that DHA increased the lipid raft level, instead of disrupting it. The results of this study suggest that DHA may exert its antidepressant effect by translocating Gsα from lipid raft and potentiating the activity of adenylate cyclase. Importantly, the reduced Gsα in lipid raft by DHA is independent of disruption of lipid raft. Overall, the study provides partial preclinical evidence supporting a safe and effective therapy using DHA for depression. Copyright © 2015 Elsevier Inc. All rights reserved.

  18. A Rare Allele of GS2 Enhances Grain Size and Grain Yield in Rice.

    Science.gov (United States)

    Hu, Jiang; Wang, Yuexing; Fang, Yunxia; Zeng, Longjun; Xu, Jie; Yu, Haiping; Shi, Zhenyuan; Pan, Jiangjie; Zhang, Dong; Kang, Shujing; Zhu, Li; Dong, Guojun; Guo, Longbiao; Zeng, Dali; Zhang, Guangheng; Xie, Lihong; Xiong, Guosheng; Li, Jiayang; Qian, Qian

    2015-10-05

    Grain size determines grain weight and affects grain quality. Several major quantitative trait loci (QTLs) regulating grain size have been cloned; however, our understanding of the underlying mechanism that regulates the size of rice grains remains fragmentary. Here, we report the cloning and characterization of a dominant QTL, grain size on chromosome 2 (GS2), which encodes Growth-Regulating Factor 4 (OsGRF4), a transcriptional regulator. GS2 localizes to the nucleus and may act as a transcription activator. A rare mutation of GS2 affecting the binding site of a microRNA, OsmiR396c, causes elevated expression of GS2/OsGRF4. The increase in GS2 expression leads to larger cells and increased numbers of cells, which thus enhances grain weight and yield. The introduction of this rare allele of GS2/OsGRF4 into rice cultivars could significantly enhance grain weight and increase grain yield, with possible applications in breeding high-yield rice varieties. Copyright © 2015 The Author. Published by Elsevier Inc. All rights reserved.

  19. Methionine sulfoximine supplementation enhances productivity in GS-CHOK1SV cell lines through glutathione biosynthesis.

    Science.gov (United States)

    Feary, Marc; Racher, Andrew J; Young, Robert J; Smales, C Mark

    2017-01-01

    In Lonza Biologics' GS Gene Expression System™, recombinant protein-producing GS-CHOK1SV cell lines are generated by transfection with an expression vector encoding both GS and the protein product genes followed by selection in MSX and glutamine-free medium. MSX is required to inhibit endogenous CHOK1SV GS, and in effect create a glutamine auxotrophy in the host that can be complemented by the expression vector encoded GS in selected cell lines. However, MSX is not a specific inhibitor of GS as it also inhibits the activity of GCL (a key enzyme in the glutathione biosynthesis pathway) to a similar extent. Glutathione species (GSH and GSSG) have been shown to provide both oxidizing and reducing equivalents to ER-resident oxidoreductases, raising the possibility that selection for transfectants with increased GCL expression could result in the isolation of GS-CHOKISV cell lines with improved capacity for recombinant protein production. In this study we have begun to address the relationship between MSX supplementation, the amount of intracellular GCL subunit and mAb production from a panel of GS-CHOK1SV cell lines. We then evaluated the influence of reduced GCL activity on batch culture of an industrially relevant mAb-producing GS-CHOK1SV cell line. To the best of our knowledge, this paper describes for the first time the change in expression of GCL subunits and recombinant mAb production in these cell lines with the degree of MSX supplementation in routine subculture. Our data also shows that partial inhibition of GCL activity in medium containing 75 µM MSX increases mAb productivity, and its more specific inhibitor BSO used at a concentration of 80 µM in medium increases the specific rate of mAb production eight-fold and the concentration in harvest medium by two-fold. These findings support a link between the inhibition of glutathione biosynthesis and recombinant protein production in industrially relevant systems and provide a process-driven method for

  20. 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.

  1. 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; Barauskas, 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

    2016-03-17

    The most recent Ebola virus outbreak in West Africa, which was 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 sequelae. No antiviral therapeutics have yet received regulatory approval or demonstrated clinical efficacy. Here we report the discovery of a novel small molecule GS-5734, a monophosphoramidate prodrug of an adenosine analogue, with antiviral activity against EBOV. GS-5734 exhibits antiviral activity against multiple variants of EBOV and other filoviruses 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 alternative substrate and RNA-chain terminator in primer-extension assays using 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, eyes, and brain. In a rhesus monkey model of EVD, once-daily intravenous administration of 10 mg kg(-1) 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 out of six treated animals. These results show 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

  2. FiGS: a filter-based gene selection workbench for microarray data

    Directory of Open Access Journals (Sweden)

    Yun Taegyun

    2010-01-01

    Full Text Available Abstract Background The selection of genes that discriminate disease classes from microarray data is widely used for the identification of diagnostic biomarkers. Although various gene selection methods are currently available and some of them have shown excellent performance, no single method can retain the best performance for all types of microarray datasets. It is desirable to use a comparative approach to find the best gene selection result after rigorous test of different methodological strategies for a given microarray dataset. Results FiGS is a web-based workbench that automatically compares various gene selection procedures and provides the optimal gene selection result for an input microarray dataset. FiGS builds up diverse gene selection procedures by aligning different feature selection techniques and classifiers. In addition to the highly reputed techniques, FiGS diversifies the gene selection procedures by incorporating gene clustering options in the feature selection step and different data pre-processing options in classifier training step. All candidate gene selection procedures are evaluated by the .632+ bootstrap errors and listed with their classification accuracies and selected gene sets. FiGS runs on parallelized computing nodes that capacitate heavy computations. FiGS is freely accessible at http://gexp.kaist.ac.kr/figs. Conclusion FiGS is an web-based application that automates an extensive search for the optimized gene selection analysis for a microarray dataset in a parallel computing environment. FiGS will provide both an efficient and comprehensive means of acquiring optimal gene sets that discriminate disease states from microarray datasets.

  3. Investigation of structure and function of mitochondrial alcohol dehydrogenase isozyme III from Komagataella phaffii GS115.

    Science.gov (United States)

    Zhang, Huaidong; Li, Qin; Wang, Lina; Chen, Yan

    2018-05-01

    Alcohol dehydrogenases (ADHs) catalyze the reversible oxidation of alcohol using NAD + or NADP + as cofactor. Three ADH homologues have been identified in Komagataella phaffii GS115 (also named Pichia pastoris GS115), ADH1, ADH2 and ADH3, among which adh3 is the only gene responsible for consumption of ethanol in Komagataella phaffii GS115. However, the relationship between structure and function of mitochondrial alcohol dehydrogenase isozyme III from Komagataella phaffii GS115 (KpADH3) is still not clear yet. KpADH3 was purified, identified and characterized by multiple biophysical techniques (Nano LC-MS/MS, Enzymatic activity assay, X-ray crystallography). The crystal structure of KpADH3, which was the first ADH structure from Komagataella phaffii GS115, was solved at 1.745 Å resolution. Structural analysis indicated that KpADH3 was the sole dimeric ADH structure with face-to-face orientation quaternary structure from yeast. The major structural different conformations located on residues 100-114 (the structural zinc binding loop) and residues 337-344 (the loop between α12 and β15 which covered the catalytic domain). In addition, three channels were observed in KpADH3 crystal structure, channel 2 and channel 3 may be essential for substrate specific recognition, ingress and egress, channel 1 may be the pass-through for cofactor. KpADH3 plays an important role in the metabolism of alcohols in Komagataella phaffii GS115, and its crystal structure is the only dimeric medium-chain ADH from yeast described so far. Knowledge of the relationship between structure and function of KpADH3 is crucial for understanding the role of KpADH3 in Komagataella phaffii GS115 mitochondrial metabolism. Copyright © 2018 Elsevier B.V. All rights reserved.

  4. The Loss of Vacuolar Protein Sorting 11 (vps11) Causes Retinal Pathogenesis in a Vertebrate Model of Syndromic Albinism

    Science.gov (United States)

    Thomas, Jennifer L.; Vihtelic, Thomas S.; denDekker, Aaron D.; Willer, Gregory; Luo, Xixia; Murphy, Taylor R.; Gregg, Ronald G.; Hyde, David R.

    2011-01-01

    Purpose. To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS). Methods. Bulked segregant analysis and candidate gene sequencing revealed that the zebrafish platinum mutation is a single-nucleotide insertion in the vps11 (vacuolar protein sorting 11) gene. Expression of vps11 was determined by RT-PCR and in situ hybridization. Mutants were analyzed for pigmentation defects and retinal disease by histology, immunohistochemistry, and transmission electron microscopy. Results. Phenocopy and rescue experiments determined that a loss of Vps11 results in the platinum phenotype. Expression of vps11 appeared ubiquitous during zebrafish development, with stronger expression in the developing retina and retinal pigmented epithelium (RPE). Zebrafish platinum mutants exhibited reduced pigmentation in the body and RPE; however, melanophore development, migration, and dispersion occurred normally. RPE, photoreceptors, and inner retinal neurons formed normally in zebrafish platinum mutants. However, a gradual loss of RPE, an absence of mature melanosomes, and the subsequent degradation of RPE/photoreceptor interdigitation was observed. Conclusions. These data show that Vps11 is not necessary for normal retinal development or initiation of melanin biosynthesis, but is essential for melanosome maturation and healthy maintenance of the RPE and photoreceptors. PMID:21330665

  5. Ectopic Expression of GsSRK in Medicago sativa Reveals Its Involvement in Plant Architecture and Salt Stress Responses.

    Science.gov (United States)

    Sun, Mingzhe; Qian, Xue; Chen, Chao; Cheng, Shufei; Jia, Bowei; Zhu, Yanming; Sun, Xiaoli

    2018-01-01

    Receptor-like kinases (RLK) play fundamental roles in plant growth and stress responses. Compared with other RLKs, little information is provided concerning the S-locus LecRLK subfamily, which is characterized by an extracellular G-type lectin domain and an S-locus-glycop domain. Until now, the function of the G-type lectin domain is still unknown. In a previous research, we identified a Glycine soja S-locus LecRLK gene GsSRK , which conferred increased salt stress tolerance in transgenic Arabidopsis . In this study, to investigate the role of the G-type lectin domain and to breed transgenic alfalfa with superior salt stress tolerance, we transformed the full-length GsSRK ( GsSRK-f ) and a truncated version of GsSRK ( GsSRK-t ) deleting the G-type lectin domain into alfalfa. Our results showed that overexpression of GsSRK-t , but not GsSRK-f , resulted in changes of plant architecture, as evidenced by more branches but shorter shoots of GsSRK-t transgenic alfalfa, indicating a potential role of the extracellular G-type lectin domain in regulating plant architecture. Furthermore, we also found that transgenic alfalfa overexpressing either GsSRK-f or GsSRK-t showed increased salt stress tolerance, and GsSRK-t transgenic alfalfa displayed better growth (more branches and higher fresh weight) than GsSRK-f lines under salt stress. In addition, our results suggested that both GsSRK-f and GsSRK-t were involved in ion homeostasis, ROS scavenging, and osmotic regulation. Under salt stress, the Na + content in the transgenic lines was significantly lower, while the K + content was slightly higher than that in WT. Moreover, the transgenic lines displayed reduced ion leakage and MDA content, but increased SOD activity and proline content than WT. Notably, no obvious difference in these physiological indices was observed between GsSRK-f and GsSRK-t transgenic lines, implying that deletion of the GsSRK G-type lectin domain does not affect its physiological function in salt

  6. Specific requirements of GS-R3 related to process implementation

    International Nuclear Information System (INIS)

    Florescu, N.

    2009-01-01

    The PowerPoint presentation gives: an overview of IAEA management system requirements or topics; - the requirements specific to processes and process implementation; - the key practical challenge of using the process approach specified in IAEA SG GS-G3.1 and GS-G3.5. The following items are thoroughly discussed: - Requirements related to specific process implementation and developing processes; - Process management; Generic management; - System processes: - Control of documents; Control of products; Control of records; - Purchasing; - Communication; - Managing organizational change; - Other requirements concerning the process management system; - General management system; - Grading; - Documentation; - Fulfilling the requirements of interested parties; - Management responsibility; - Planning responsibility and authority for the management system monitoring and measurement; - Independent assessment; - Management system review; - Non-conformances, corrective and preventive actions; - Improvement key practical challenge of using the process approach specified in IAEA SG GS-G3.1 and GS-G3.5; - Key challenge: - Process common to all stages; - Phases of process development proposed by IAEA. The following conclusions complete the presentation: GS-R-3 sets basic requirements for process-based integrated management system; - Some key generic processes required, no specific process model favoured namely, no reference to management, core and support processes; - Up to organization to determine appropriate process model; - Easily applicable to a wide range of facilities and activities, including those of a regulatory body; - Specific requirements are found in specific Safety Guide. (author)

  7. TaGS5-3A, a grain size gene selected during wheat improvement for larger kernel and yield.

    Science.gov (United States)

    Ma, Lin; Li, Tian; Hao, Chenyang; Wang, Yuquan; Chen, Xinhong; Zhang, Xueyong

    2016-05-01

    Grain size is a dominant component of grain weight in cereals. Earlier studies have shown that OsGS5 plays a major role in regulating both grain size and weight in rice via promotion of cell division. In this study, we isolated TaGS5 homoeologues in wheat and mapped them on chromosomes 3A, 3B and 3D. Temporal and spatial expression analysis showed that TaGS5 homoeologues were preferentially expressed in young spikes and developing grains. Two alleles of TaGS5-3A, TaGS5-3A-T and TaGS5-3A-G were identified in wheat accessions, and a functional marker was developed to discriminate them. Association analysis revealed that TaGS5-3A-T was significantly correlated with larger grain size and higher thousand kernel weight. Biochemical assays showed that TaGS5-3A-T possesses a higher enzymatic activity than TaGS5-3A-G. Transgenic rice lines overexpressing TaGS5-3A-T also exhibited larger grain size and higher thousand kernel weight than TaGS5-3A-G lines, and the transcript levels of cell cycle-related genes in TaGS5-3A-T lines were higher than those in TaGS5-3A-G lines. Furthermore, systematic evolution analysis in diploid, tetraploid and hexaploid wheat showed that TaGS5-3A underwent strong artificial selection during wheat polyploidization events and the frequency changes of two alleles demonstrated that TaGS5-3A-T was favoured in global modern wheat cultivars. These results suggest that TaGS5-3A is a positive regulator of grain size and its favoured allele TaGS5-3A-T exhibits a larger potential application in wheat high-yield breeding. © 2015 Society for Experimental Biology, Association of Applied Biologists and John Wiley & Sons Ltd.

  8. A 2-GS/s 6-bit self-calibrated flash ADC

    Energy Technology Data Exchange (ETDEWEB)

    Zhang Youtao; Chen Chen [National Key Laboratory of Monolithic Integrated Circuits and Modules, Nanjing Electronic Devices Institute, Nanjing 210016 (China); Li Xiaopeng; Zhang Min; Liu Ao, E-mail: zhangyt@nedc-ic.co [Nanjing Electronic Devices Institute, Nanjing 210016 (China)

    2010-09-15

    A single channel 2-GS/s 6-bit ADC with cascade resistive averaging and self foreground calibration is demonstrated in 0.18-{mu}m 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. (semiconductor integrated circuits)

  9. Correspondence of ISO 9001:2008 with IAEA GS-R-3

    International Nuclear Information System (INIS)

    Kibrit, Eduardo

    2009-01-01

    This article identifies, characterises and analyses International Organisation for Standardisation (ISO) and International Atomic Energy Agency (IAEA) normative requirements for the development and implementation of quality management systems in nuclear organisations. The structures of the applicable standards, ISO 9001:2008 and IAEA GS-R-3, are characterised. The differences and similarities of objective, focus, scope, level of application, structure, vocabulary, management system, management responsibility, resource management, process implementation, measurement, assessment and improvement verified in the applicable standards are deeply reviewed. A correspondence of the applicable standards' requirements is presented topic by topic. A correlation of the applicable standards' requirements is made, showing IAEA GS-R-3 topics that have no correlation with ISO 9001:2008 and ISO 9001:2008 topics that have no correlation with IAEA GS-R-3. Conclusive remarks advise the pros and cons of using one of the applicable standards or the other. (author)

  10. 0(gs)+ -->2(1)+ transition strengths in 106Sn and 108Sn.

    Science.gov (United States)

    Ekström, A; Cederkäll, J; Fahlander, C; Hjorth-Jensen, M; Ames, F; Butler, P A; Davinson, T; Eberth, J; Fincke, F; Görgen, A; Górska, M; Habs, D; Hurst, A M; Huyse, M; Ivanov, O; Iwanicki, J; Kester, O; Köster, U; Marsh, B A; Mierzejewski, J; Reiter, P; Scheit, H; Schwalm, D; Siem, S; Sletten, G; Stefanescu, I; Tveten, G M; Van de Walle, J; Van Duppen, P; Voulot, D; Warr, N; Weisshaar, D; Wenander, F; Zielińska, M

    2008-07-04

    The reduced transition probabilities, B(E2; 0(gs)+ -->2(1)+), have been measured in the radioactive isotopes (108,106)Sn using subbarrier Coulomb excitation at the REX-ISOLDE facility at CERN. Deexcitation gamma rays were detected by the highly segmented MINIBALL Ge-detector array. The results, B(E2;0(gs)+ -->2(1)+)=0.222(19)e2b2 for 108Sn and B(E2; 0(gs)+-->2(1)+)=0.195(39)e2b2 for 106Sn were determined relative to a stable 58Ni target. The resulting B(E2) values are approximately 30% larger than shell-model predictions and deviate from the generalized seniority model. This experimental result may point towards a weakening of the N=Z=50 shell closure.

  11. 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.

  12. 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

  13. 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 an...

  14. 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.

  15. Foam generation during G.S. [Girdler sulphide] process and its prevention

    International Nuclear Information System (INIS)

    Lammirato, Alberto; Rojo, Enrique.

    1989-01-01

    Available literature, from both foreign and local sources, regarding foam generation during Girdler Sulphide (G.S.) process operation, was compiled. Assembly and operation of a loop for hydraulic process conditions simulation, of which further tests are to be expected, is reported. (Author) [es

  16. 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

  17. 78 FR 10001 - Proposed Collection; Comment Request for Form 706-GS(D)

    Science.gov (United States)

    2013-02-12

    ... Form 706-GS(D), Generation-Skipping Transfer Tax Return for Distributions. DATES: Written comments should be received on or before April 15, 2013 to be assured of consideration. ADDRESSES: Direct all... [email protected] . SUPPLEMENTARY INFORMATION: Title: Generation-Skipping Transfer Tax Return for...

  18. GS143, an IκB ubiquitination inhibitor, inhibits allergic airway inflammation in mice

    International Nuclear Information System (INIS)

    Hirose, Koichi; Wakashin, Hidefumi; Oki, Mie; Kagami, Shin-ichiro; Suto, Akira; Ikeda, Kei; Watanabe, Norihiko; Iwamoto, Itsuo; Furuichi, Yasuhiro; Nakajima, Hiroshi

    2008-01-01

    Asthma is characterized by airway inflammation with intense eosinophil infiltration and mucus hyper-production, in which antigen-specific Th2 cells play critical roles. Nuclear factor-κB (NF-κB) pathway has been demonstrated to be essential for the production of Th2 cytokines and chemokines in the airways in murine asthma models. In the present study, we examined the effect of GS143, a novel small-molecule inhibitor of IκB ubiquitination, on antigen-induced airway inflammation and Th2 cytokine production in mice. Intranasal administration of GS143 prior to antigen challenge suppressed antigen-induced NF-κB activation in the lung of sensitized mice. Intranasal administration of GS143 also inhibited antigen-induced eosinophil and lymphocyte recruitment into the airways as well as the expression of Th2 cytokines and eotaxin in the airways. Moreover, GS143 inhibited antigen-induced differentiation of Th2 cells but not of Th1 cells in vitro. Taken together, these results suggest that IκB ubiquitination inhibitor may have therapeutic potential against asthma

  19. 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.

  20. 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...

  1. Haplotypes of the TaGS5-A1 gene are associated with thousand-kernel weight in Chinese bread wheat

    Directory of Open Access Journals (Sweden)

    Wang Sha Sha

    2016-06-01

    Full Text Available In previous work, we cloned TaGS5 gene and found the association of TaGS5-A1 alleles with agronomic traits. In this study, the promoter sequence of the TaGS5-A1 gene was isolated from bread wheat. Sequencing results revealed that a G insertion was found in position -1925 bp of the TaGS5-A1 gene (Reference to ATG, which occurred in the Sp1 domain of the promoter sequence. Combined with previous single nucleotide polymorphism (SNP in the TaGS5-A1 exon sequence, four genotypes were formed at the TaGS5-A1 locus and were designated as TaGS5-A1a-a, TaGS5-A1a-b, TaGS5-A1b-a, and TaGS5-A1b-b, respectively. Analysis of the association of TaGS5-A1 alleles with agronomic traits indicated that cultivars with the TaGS5-A1a-b allele possessed significantly higher thousand-kernel weight (TKW and lower plant height than cultivars with the TaGS5-A1a-a allele, and cultivars with the TaGS5-A1b-b allele showed higher TKW than cultivars with the TaGS5-A1b-a allele. The differences of these traits between the TaGS5-A1a-a and TaGS5-A1a-b alleles were larger than those of the TaGS5-A1b-a and TaGS5-A1b-b alleles, suggesting that the -1925G insertion plays the more important role in TaGS5-A1a genotypes than in TaGS5-A1b genotypes. qRT-PCR indicated that TaGS5-A1b-b possessed the significantly highest expression level among four TaGS5-A1 haplotypes in mature seeds and further showed a significantly higher expression level than TaGS5-A1b-a at five different developmental stages of the seeds, suggesting that high expression of TaGS5-A1 was positively associated with high TKW in bread wheat. This study could provide a relatively superior genotype in view of TKW in wheat breeding programs and could also provide important information for dissection of the regulatory mechanism of the yield-related traits.

  2. Bilirubin and beyond : A review of lipid status in Gilbert's syndrome and its relevance to cardiovascular disease protection

    NARCIS (Netherlands)

    Bulmer, A. C.; Verkade, H. J.; Wagner, K. -H.

    Gilbert's syndrome (GS) is characterized by a benign, mildly elevated bilirubin concentration in the blood. Recent reports show clear protection from cardiovascular disease in this population. Protection of lipids, proteins and other macromolecules from oxidation by bilirubin represents the most

  3. Adrenocortical Secreting Mass in a Patient with Gardner's Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Nabila Mejdoub Rekik

    2010-01-01

    Full Text Available Gardner's syndrome (GS is a dysplasia characterized by neoformations of the intestine, soft tissue, and osseous tissue. Endocrine neoplasms have occasionally been reported in association with GS. Adrenal masses in GS are rare, and few have displayed clinical manifestations. In the current paper, The authors report a 37-year-old male patient with GS including familial adenomatous polyposis (FAP and mandible osteoma who presented with an incidental adrenal mass. Computerized tomography adrenal scan identified bilateral masses. Functional analyses showed a hormonal secretion pattern consistent with pre-Cushing's syndrome. Other extraintestinal manifestations were hypertrophy of the pigmented layer of the retina and histiocytofibroma in the right leg. This paper describes a rare association of adrenocortical secreting mass in an old male patient with Gardner syndrome.

  4. 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.

  5. Antifoaming materials in G.S. (Girlder sulfide) heavy water plants. Thermical stability. Pt. 2

    International Nuclear Information System (INIS)

    Delfino, C.A.

    1986-01-01

    In Girlder sulfide (G.S.) heavy water plants hydrogen sulfide-water systems are inherentely foaming, so the adding of antifoaming materials is of great importance. These may be of high volatility, pyrolizable or chemically unstable in plant operation conditions (water and hydrogen sulfide at 2 MPa, up to 230 deg C). About twenty commercial surfactants were studied from the point of view of their thermical stability. (Author) [es

  6. HARD X-RAY TAIL DISCOVERED IN THE CLOCKED BURSTER GS 1826–238

    Energy Technology Data Exchange (ETDEWEB)

    Rodi, J.; Jourdain, E.; Roques, J. P., E-mail: jrodi@irap.omp.eu [Université de Toulouse, UPS-OMP, IRAP, Toulouse (France)

    2016-02-01

    The low-mass X-ray binary (LMXB) neutron star (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 Γ ∼ 2–3. GS 1826–238 was found to have a markedly different spectrum with kT{sub e} ∼ 20 keV and a hard tail dominating above ∼150 keV with an index of Γ ∼ 1.8, more similar to black hole X-ray binaries. We report on our search for long-term spectral variability over the 25–370 keV energy range and on a comparison of the GS 1826–238 average spectrum to the spectra of other LMXB NSs with hard tails.

  7. Therapeutic Efficacy of the Small Molecule GS-5734 against Ebola virus in Rhesus Monkeys

    Science.gov (United States)

    2016-03-02

    culture. The diastereomeric mixture at phosphorous 858 containing GS-5734 was incubated continuously for 72 h at 1 µM and levels of intracellular NTP...constants (J) in Hertz. Analytical thin–layer chromatography was performed using Merck KGaA Silica gel 60 F254 glassplates with UV visualization. Preparative...trifluoroacetic acid in water and 0.1% trifluoroacetic acid in acetonitrile; flow rate, 2 mL/min; acquisition time, 6 min; wavelength, UV 214 and 254 nm

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    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....

  9. Gs-coupled GPCR signalling in AgRP neurons triggers sustained increase in food intake.

    Science.gov (United States)

    Nakajima, Ken-ichiro; Cui, Zhenzhong; Li, Chia; Meister, Jaroslawna; Cui, Yinghong; Fu, Ou; Smith, Adam S; Jain, Shalini; Lowell, Bradford B; Krashes, Michael J; Wess, Jürgen

    2016-01-08

    Agouti-related peptide (AgRP) neurons of the hypothalamus play a key role in regulating food intake and body weight, by releasing three different orexigenic molecules: AgRP; GABA; and neuropeptide Y. AgRP neurons express various G protein-coupled receptors (GPCRs) with different coupling properties, including Gs-linked GPCRs. At present, the potential role of Gs-coupled GPCRs in regulating the activity of AgRP neurons remains unknown. Here we show that the activation of Gs-coupled receptors expressed by AgRP neurons leads to a robust and sustained increase in food intake. We also provide detailed mechanistic data linking the stimulation of this class of receptors to the observed feeding phenotype. Moreover, we show that this pathway is clearly distinct from other GPCR signalling cascades that are operative in AgRP neurons. Our data suggest that drugs able to inhibit this signalling pathway may become useful for the treatment of obesity.

  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. 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...

  12. Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.

    Science.gov (United States)

    Cruz, António José; Castro, Alexandra

    2013-01-22

    A 32-year-old woman with no significant medical history was sent to our consultation due to hypokalaemia (syndrome (GS) came negative. CLCNKB gene mutation analysis present in both GS and Bartter (BS) type 3 syndromes was positive. The patient is now being treated with potassium and magnesium oral supplements, ramipril and spironolactone with stable near-normal potassium and magnesium levels. This article presents the case of a patient with hypokalaemia caused by CLCNKB gene mutation hard to categorise as GS or BS type 3.

  13. 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

    2016-10-07

    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 Fe 3+ , 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 Fe 3+ and P-GS408. Three-dimensional excitation-emission (EEM) fluorescence spectra demonstrates that the trivalent Fe 3+ and Al 3+ 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.

  14. Mechanistic Characterization of GS-9190 (Tegobuvir), a Novel Nonnucleoside Inhibitor of Hepatitis C Virus NS5B Polymerase▿

    Science.gov (United States)

    Shih, I-hung; Vliegen, Inge; Peng, Betty; Yang, Huiling; Hebner, Christy; Paeshuyse, Jan; Pürstinger, Gerhard; Fenaux, Martijn; Tian, Yang; Mabery, Eric; Qi, Xiaoping; Bahador, Gina; Paulson, Matthew; Lehman, Laura S.; Bondy, Steven; Tse, Winston; Reiser, Hans; Lee, William A.; Schmitz, Uli; Neyts, Johan; Zhong, Weidong

    2011-01-01

    GS-9190 (Tegobuvir) is a novel imidazopyridine inhibitor of hepatitis C virus (HCV) RNA replication in vitro and has demonstrated potent antiviral activity in patients chronically infected with genotype 1 (GT1) HCV. GS-9190 exhibits reduced activity against GT2a (JFH1) subgenomic replicons and GT2a (J6/JFH1) infectious virus, suggesting that the compound's mechanism of action involves a genotype-specific viral component. To further investigate the GS-9190 mechanism of action, we utilized the susceptibility differences between GT1b and GT2a by constructing a series of replicon chimeras where combinations of 1b and 2a nonstructural proteins were encoded within the same replicon. The antiviral activities of GS-9190 against the chimeric replicons were reduced to levels comparable to that of the wild-type GT2a replicon in chimeras expressing GT2a NS5B. GT1b replicons in which the β-hairpin region (amino acids 435 to 455) was replaced by the corresponding sequence of GT2a were markedly less susceptible to GS-9190, indicating the importance of the thumb subdomain of the polymerase in this effect. Resistance selection in GT1b replicon cells identified several mutations in NS5B (C316Y, Y448H, Y452H, and C445F) that contributed to the drug resistance phenotype. Reintroduction of these mutations into wild-type replicons conferred resistance to GS-9190, with the number of NS5B mutations correlating with the degree of resistance. Analysis of GS-9190 cross-resistance against previously reported NS5B drug-selected mutations showed that the resistance pattern of GS-9190 is different from other nonnucleoside inhibitors. Collectively, these data demonstrate that GS-9190 represents a novel class of nonnucleoside polymerase inhibitors that interact with NS5B likely through involvement of the β-hairpin in the thumb subdomain. PMID:21746939

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

    Directory of Open Access Journals (Sweden)

    Nagendra Chaudhary

    2017-01-01

    Full Text Available 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.

  16. 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.

  17. Analysis of the Second Law of Thermodynamics applied to GS process in the primary production of heavy water

    International Nuclear Information System (INIS)

    Chavez, Rosa Hilda

    1991-01-01

    An evaluation of the entropic change, through the analysis of the Second Law of Thermodynamic of GS process, with the aim of determine the sections where the majors irreversibilities of the process are located, is presented in this work. This process consist in the first enrichment stage of GS, which operates bithermally at 305 D and 403 Kelvin degree and a pressure of 2 MPa, participating four chemical compounds: H 2 O, HDO, H 2 S and HDS (Author)

  18. 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....

  19. 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

    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. 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. 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.

    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.

  1. 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.

  2. Use of plant trait data in the ISBA-A-gs model

    Science.gov (United States)

    Calvet, Jean-Christophe

    2014-05-01

    ISBA-A-gs is a CO2-responsive LSM (Calvet et al., 1998; Gibelin et al., 2006), able to simulate the diurnal cycle of carbon and water vapour fluxes, together with LAI and soil moisture evolution. The various components of ISBA-A-gs are based to a large extent on meta-analyses of trait data. (1) Photosynthesis: ISBA-A-gs uses the model of Goudriaan et al. (1985) modified by Jacobs (1994) and Jacobs et al. (1996). The main parameter is mesophyll conductance (gm). Leaf-level photosynthesis observations were used together with canopy level flux observations to derive gm together with other key parameters of the Jacobs model, including in drought conditions. This permitted implementing detailed representations of the soil moisture stress. Two different types of drought responses are distinguished for both herbaceous vegetation (Calvet, 2000) and forests (Calvet et al., 2004), depending on the evolution of the water use efficiency (WUE) under moderate stress: WUE increases in the early soil water stress stages in the case of the drought-avoiding response, whereas WUE decreases or remains stable in the case of the drought-tolerant response. (2) Plant growth: the leaf biomass is provided by a growth model (Calvet et al., 1998; Calvet and Soussana, 2001) driven by photosynthesis. In contrast to other land surface models, no GDD-based phenology model is used in ISBA-A-gs, as the vegetation growth and senescence are entirely driven by photosynthesis. The leaf biomass is supplied with the carbon assimilated by photosynthesis, and decreased by a turnover and a respiration term. Turnover is increased by a deficit in photosynthesis. The leaf onset is triggered by sufficient photosynthesis levels and a minimum LAI value is prescribed. The maximum annual value of LAI is prognostic, i.e. it can be predicted by the model. LAI is derived from leaf biomass using SLA values. The latter are derived from the leaf nitrogen concentration using plasticity parameters. (3) CO2 effect: the

  3. Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes.

    NARCIS (Netherlands)

    Calo, L.; Ceolotto, G.; Milani, M.; Pagnin, E.; Heuvel, L.P.W.J. van den; Sartori, M.; Davis, A.P.; Costa, R.; Semplicini, A.

    2001-01-01

    BACKGROUND: The constitutive endothelial isoform of nitric oxide synthase (ecNOS) and nitric oxide (NO) production are increased in patients with Bartter syndrome (BS) and Gitelman (GS) syndrome and may reduce vascular tone. Moreover, these patients present an abnormal cell signaling [reduced

  4. Comparisons of 'Identical' Simulations by the Eulerian Gyrokinetic Codes GS2 and GYRO

    Science.gov (United States)

    Bravenec, R. V.; Ross, D. W.; Candy, J.; Dorland, W.; McKee, G. R.

    2003-10-01

    A major goal of the fusion program is to be able to predict tokamak transport from first-principles theory. To this end, the Eulerian gyrokinetic code GS2 was developed years ago and continues to be improved [1]. Recently, the Eulerian code GYRO was developed [2]. These codes are not subject to the statistical noise inherent to particle-in-cell (PIC) codes, and have been very successful in treating electromagnetic fluctuations. GS2 is fully spectral in the radial coordinate while GYRO uses finite-differences and ``banded" spectral schemes. To gain confidence in nonlinear simulations of experiment with these codes, ``apples-to-apples" comparisons (identical profile inputs, flux-tube geometry, two species, etc.) are first performed. We report on a series of linear and nonlinear comparisons (with overall agreement) including kinetic electrons, collisions, and shaped flux surfaces. We also compare nonlinear simulations of a DIII-D discharge to measurements of not only the fluxes but also the turbulence parameters. [1] F. Jenko, et al., Phys. Plasmas 7, 1904 (2000) and refs. therein. [2] J. Candy, J. Comput. Phys. 186, 545 (2003).

  5. 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...

  6. Necessary and sufficient liveness condition of GS3PR Petri nets

    Science.gov (United States)

    Liu, GaiYun; Barkaoui, Kamel

    2015-05-01

    Structural analysis is one of the most important and efficient methods to investigate the behaviour of Petri nets. Liveness is a significant behavioural property of Petri nets. Siphons, as structural objects of a Petri net, are closely related to its liveness. Many deadlock control policies for flexible manufacturing systems (FMS) modelled by Petri nets are implemented via siphon control. Most of the existing methods design liveness-enforcing supervisors by adding control places for siphons based on their controllability conditions. To compute a liveness-enforcing supervisor with as much as permissive behaviour, it is both theoretically and practically significant to find an exact controllability condition for siphons. However, the existing conditions, max, max‧, and max″-controllability of siphons are all overly restrictive and generally sufficient only. This paper develops a new condition called max*-controllability of the siphons in generalised systems of simple sequential processes with resources (GS3PR), which are a net subclass that can model many real-world automated manufacturing systems. We show that a GS3PR is live if all its strict minimal siphons (SMS) are max*-controlled. Compared with the existing conditions, i.e., max-, max‧-, and max″-controllability of siphons, max*-controllability of the SMS is not only sufficient but also necessary. An example is used to illustrate the proposed method.

  7. NICER Discovers mHz Oscillations and Marginally Stable Burning in GS 1826-24

    Science.gov (United States)

    Strohmayer, Tod E.; Gendreau, Keith C.; Keek, Laurens; Bult, Peter; Mahmoodifar, Simin; Chakrabarty, Deepto; Arzoumanian, Zaven; NICER Science Team

    2018-01-01

    To date, marginally stable thermonuclear burning, evidenced as mHz X-ray flux oscillations, has been observed in only five accreting neutron star binaries, 4U 1636-536, 4U 1608-52, Aql X-1, 4U 1323-619 and Terzan 5 X-2. Here we report the discovery with NASA's Neutron Star Interior Composition Explorer (NICER) of such oscillations from the well-known X-ray burster GS 1826-24. NICER observed GS 1826-24 on 9 September, 2017 for a total exposure of about 4 ksec. Timing analysis revealed highly significant oscillations at a frequency of 8.2 mHz in two successive pointings. The oscillations have a fractional modulation amplitude of approximately 3% for photon energies less than 6 keV. The observed frequency is consistent with the range observed in the other mHz QPO systems, and indeed is slightly higher than the frequency measured in 4U 1636-536 below which mHz oscillations ceased and unstable burning (X-ray bursts) resumed. We discuss the mass accretion rate dependence of the oscillations as well as the X-ray spectrum as a function of pulsation phase. We place the observations in the context of the current theory of marginally stable burning and briefly discuss the potential for constraining neutron star properties using mHz oscillations.

  8. 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. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

  9. Management Systems and Safety Culture in the Nuclear Energy Sector (ISO 9001 & GS-R-3)

    International Nuclear Information System (INIS)

    Smetnik, A.; Murlis, D.

    2016-01-01

    Nowadays, the enterprises of the Rosatom State Nuclear Energy Corporation that provides products and services to foreign customers should rely on the requirements to the management systems established by the IAEA Standard GS-R-3 “The management system for facilities and activities”. This results from the fact that in order to enter foreign markets, Russian suppliers have to meet foreign requirements related to quality assurance, protection of the environment, nuclear and radiation safety, etc. For instance, the Finnish customer “Fennovoima” requires full compliance of the management systems of the Russian companies involved in the construction of the Hanhikivi-1 NPP with the GS-R-3 Standard. ISO 9001 quality management systems were widely implemented in the nuclear industry enterprises in Russia. The assessment of compliance of the quality management systems with the established requirements is carried out by the certification bodies. The same relates to the environmental management systems that are implemented at the majority of nuclear industry facilities in Russia. But due to their uniqueness and associated significant risks, the nuclear industry enterprises have to meet current safety requirements and principles established in the IAEA Safety Standards, such as safety culture and risk management.

  10. 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.

  11. Toll-like receptor 7 agonist GS-9620 induces prolonged inhibition of HBV via a type I interferon-dependent mechanism.

    Science.gov (United States)

    Niu, Congrong; Li, Li; Daffis, Stephane; Lucifora, Julie; Bonnin, Marc; Maadadi, Sarah; Salas, Eduardo; Chu, Ruth; Ramos, Hilario; Livingston, Christine M; Beran, Rudolf K; Garg, Abhishek V; Balsitis, Scott; Durantel, David; Zoulim, Fabien; Delaney, William E; Fletcher, Simon P

    2018-05-01

    GS-9620, an oral agonist of toll-like receptor 7 (TLR7), is in clinical development for the treatment of chronic hepatitis B (CHB). GS-9620 was previously shown to induce prolonged suppression of serum viral DNA and antigens in the woodchuck and chimpanzee models of CHB. Herein, we investigated the molecular mechanisms that contribute to the antiviral response to GS-9620 using in vitro models of hepatitis B virus (HBV) infection. Cryopreserved primary human hepatocytes (PHH) and differentiated HepaRG (dHepaRG) cells were infected with HBV and treated with GS-9620, conditioned media from human peripheral blood mononuclear cells treated with GS-9620 (GS-9620 conditioned media [GS-9620-CM]), or other innate immune stimuli. The antiviral and transcriptional response to these agents was determined. GS-9620 had no antiviral activity in HBV-infected PHH, consistent with low level TLR7 mRNA expression in human hepatocytes. In contrast, GS-9620-CM induced prolonged reduction of HBV DNA, RNA, and antigen levels in PHH and dHepaRG cells via a type I interferon (IFN)-dependent mechanism. GS-9620-CM did not reduce covalently closed circular DNA (cccDNA) levels in either cell type. Transcriptional profiling demonstrated that GS-9620-CM strongly induced various HBV restriction factors - although not APOBEC3A or the Smc5/6 complex - and indicated that established HBV infection does not modulate innate immune sensing or signaling in cryopreserved PHH. GS-9620-CM also induced expression of immunoproteasome subunits and enhanced presentation of an immunodominant viral peptide in HBV-infected PHH. Type I IFN induced by GS-9620 durably suppressed HBV in human hepatocytes without reducing cccDNA levels. Moreover, HBV antigen presentation was enhanced, suggesting additional components of the TLR7-induced immune response played a role in the antiviral response to GS-9620 in animal models of CHB. GS-9620 is a drug currently being tested in clinical trials for the treatment of chronic

  12. 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.

  13. Synthesis and optimization of cholesterol-based diquaternary ammonium Gemini Surfactant (Chol-GS) as a new gene delivery vector.

    Science.gov (United States)

    Kim, Bieong-Kil; Doh, Kyung-Oh; Bae, Yun-Ui; Seu, Young-Bae

    2011-01-01

    Amongst a number of potential nonviral vectors, cationic liposomes have been actively researched, with both gemini surfactants and bola amphiphiles reported as being in possession of good structures in terms of cell viability and in vitro transfection. In this study, a cholesterol-based diquaternary ammonium gemini surfactant (Chol-GS) was synthesized and assessed as a novel nonviral gene vector. Chol-GS was synthesized from cholesterol by way of four reaction steps. The optimal efficiency was found to be at a weight ratio of 1:4 of lipid:DOPE (1,2-dioleoyl-L-alpha- glycero-3-phosphatidylethanolamine), and at a ratio of between 10:1~15:1 of liposome:DNA. The transfection efficiency was compared with commercial liposomes and with Lipofectamine, 1,2-dimyristyloxypropyl-3-dimethylhydroxyethylammonium bromide (DMRIE-C), and N-[1-(2,3-dioleoyloxy)propyl]- N,N,N-trimethylammonium chloride (DOTAP). The results indicate that the efficiency of Chol-GS is greater than that of all the tested commercial liposomes in COS7 and Huh7 cells, and higher than DOTAP and Lipofectamine in A549 cells. Confirmation of these findings was observed through the use of green fluorescent protein expression. Chol-GS exhibited a moderate level of cytotoxicity, at optimum concentrations for efficient transfection, indicating cell viability. Hence, the newly synthesized Chol-GS liposome has the potential of being an excellent nonviral vector for gene delivery.

  14. Comparison between IAEA GS-R-3 and ISO 9001:2000

    International Nuclear Information System (INIS)

    Biscan, R.

    2008-01-01

    International Atomic Energy Agency (IAEA) developed Safety Standard 'The Management System for Facilities and Activities' (GS-R-3) to define the requirements for establishing, implementing, assessing, and continually improving an integrated management system to integrate: safety, health, environmental, security, quality and economic elements. Standard requirements must be met to ensure the protection of people and the environment and they are governed by the objectives, concepts and IAEA Safety Fundamentals principles. The GS-R-3 requirements may be used as the basis for the: Management System of organizations directly responsible for operating facilities and activities and providing services; Regulation of these facilities and activities by the regulatory body: Management System of the relevant regulatory bodies; Operator, to specify to the supplier, via contractual documentation, any specific requirements that must be included in the supplier's management system for the supply and delivery of products. International Organization for Standardization (ISO) developed International Standard 'Quality Management Systems - Requirements' (ISO 9001:2000) to specify requirements for a quality management system where an organization: Needs to demonstrate its ability to consistently provide product that meets customer and applicable regulatory requirements, and Aims to enhance customer satisfaction through the effective application of the system, including processes for continual improvement of the system and the assurance of conformity to customer and applicable regulatory requirements. IAEA GS-R-3 is focused on meeting the overall safety requirements for the plant, personnel and society in general, and grading the application of the management system. Any State wishing to enter into an agreement with the IAEA concerning any form of Agency assistance is required to comply with the requirements of this safety standard that pertain to the activities covered by the agreement

  15. Carbon steel protection in G.S. [Girldler sulphide] plants: Pt. 8

    International Nuclear Information System (INIS)

    Lires, Osvaldo; Delfino, Cristina; Rojo, Enrique.

    1990-01-01

    In order to protect carbon steel of towers and piping of a GS experimental heavy water plant against corrosion produced by the action of aqueous solutions of hydrogen sulphide, a method, elsewhere published, was developed. Carbon steel exposed to saturated aqueous solutions of hydrogen sulphide forms iron sulphide scales. In oxygen free solutions, evolution of corrosion follows the sequence mackinawate → cubic ferrous sulphide → troilite → pyrrotite → pyrite. Scales formed by pyrrotite and pyrite are the most protective layers (these are obtained at 130 deg C, 2 MPa for a period of 14 days). Pyrite formation is favoured by an oxidizing agent presence that allows the oxidation of sulphur ions to disulphur ions. Elemental sulphur or oxygen were used as oxidating agents. Variation and operational parameters such as concentration, temperature, pH, aggregate time, etc. were studied. Though little improvement on protective scales quality was observed, results do not justify operational troubles and the additional costs and effort involved. (Author)

  16. Replacement of a cracked pressure tube in Bruce GS unit 2

    International Nuclear Information System (INIS)

    Dunn, J.T.

    1982-06-01

    In 1982 February, a primary heat transport system leak was detected in the annulus gas system by on-line instrumentation. The source of the leak was found to be a small axial crack in the pressure tube of fuel channel X-14. This fuel channel was removed and replaced by station maintenance staff, and the unit was returned to service five weeks after it had been shut down. The cracked pressure tube was sent to Chalk River Nuclear Laboratories for examination, and the crack was found to be very similar to those found in Pickering GS units 3 and 4 in 1974-75. It was caused by delayed hydride cracking during the period of high residual stress between the time of rolling and the pre-service stress relief

  17. Carbon steel protection in G.S. (Girlder sulfide) plants. CITROSOLV process influence. Pt. 6

    International Nuclear Information System (INIS)

    Lires, O.A.; Burkart, A.L.; Delfino, C.A.; Rojo, E.A.

    1988-01-01

    In order to protect carbon steel towers and piping of Girlder sulfide (G.S.) experimental heavy water plants against corrosion produced by the action of aqueous solutions of hydrogen sulfides, a method, previously published, was developed. Carbon steel, exposed to saturated aqueous solutions of hydrogen sulfide, forms iron sulfide scales. In oxygen free solutions evolution of corrosion follows the sequence: mackinawite → cubic ferrous sulfide → troilite → pyrrotite → pyrite. Scales formed by pyrrotite-pyrite or pyrite are the most protective layers (these are obtained at 130 deg C, 2 MPa, for periods of 14 days). CITROSOLV Process (Pfizer) is used to descaling and passivating stainless steel plant's components. This process must be used in mixed (carbon steel - stainless steel) circuits and may cause the formation of magnetite scales over the carbon steel. The influence of magnetite in the pyrrotite-pyrite scales formation is studied in this work. (Author) [es

  18. Carbon steel protection in G.S. [Girldler sulphide] plants: Pt. 7

    International Nuclear Information System (INIS)

    Lires, Osvaldo; Delfino, Cristina; Rojo, Enrique.

    1989-01-01

    In order to protect carbon steel towers and piping of a GS experimental heavy water plant against corrosion produced by the action of aqueous solutions of hydrogen sulphide, a method, elsewhere published, was developed. Carbon steel exposed to saturated aqueous solutions of hydrogen sulphide forms iron sulphide scales. In oxygen free solutions, evolution of corrosion follows the sequence mackinawite → cubic ferrous sulphide → troilite → pyrrotite → pyrite. Scales formed by pyrrotite and pyrite are the most protective layers (these are obtained at 130 deg C, 2 MPa for a period of 14 days). During a plant shutdown procedures, the carbon steel protected with those scales is exposed to water and highly humid air; under such conditions oxidation is unavoidable. Later, treatment in plant conditions does not regenerate scales because the composition of regenerated scales involves more soluble iron sulphides such as mackinawite and troilite. Therefore, it is not recommendable to expose the protective scales to atmospherical conditions. (Author)

  19. A 2 GS/s 8-bit folding and interpolating ADC in 90 nm CMOS

    International Nuclear Information System (INIS)

    He Wenwei; Meng Qiao; Zhang Yi; Tang Kai

    2014-01-01

    A single-channel 2 GS/s 8-bit analog-to-digital converter in 90 nm CMOS process technology is presented. It utilizes cascade folding architecture, which incorporates an additional inter-stage sample-and-hold amplifier between the folding circuits to enhance the quantization time. It also uses the foreground on-chip digital-assisted calibration circuit to improve the linearity of the circuit. The post simulation results demonstrate that it has a differential nonlinearity < ±0.3 LSB and an integral nonlinearity < ±0.25 LSB at the Nyquist frequency. Moreover, 7.338 effective numbers of bits can be achieved at 2 GSPS. The whole chip area is 0.88 × 0.88 mm 2 with the pad. It consumes 210 mW from a 1.2 V single supply. (semiconductor integrated circuits)

  20. Potent Inhibitory Effects of D-tagatose on the Acid Production and Water-insoluble Glucan Synthesis of Streptococcus mutans GS5 in the Presence of Sucrose

    OpenAIRE

    Sawada, Daijo; Ogawa, Takaaki; Miyake, Minoru; Hasui, Yoshinori; Yamaguchi, Fuminori; Izumori, Ken; Tokuda, Masaaki

    2015-01-01

    We examined and compared the inhibitory effects of D-tagatose on the growth, acid production, and water-insoluble glucan synthesis of GS5, a bacterial strain of Streptococcus mutans, with those of xylitol, D-psicose, L-psicose and L-tagatose. GS5 was cultured for 12h in a medium containing 10オ (w/v) of xylitol, D-psicose, L-psicose, D-tagatose or L-tagatose, and the inhibitory effect of GS5 growth was assessed. Each sugar showed different inhibitory effects on GS5. Both D-tagatose and xylitol...

  1. 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.

  2. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  3. Molecular characterization of a novel algal glutamine synthetase (GS) and an algal glutamate synthase (GOGAT) from the colorful outer mantle of the giant clam, Tridacna squamosa, and the putative GS-GOGAT cycle in its symbiotic zooxanthellae.

    Science.gov (United States)

    Fam, Rachel R S; Hiong, Kum C; Choo, Celine Y L; Wong, Wai P; Chew, Shit F; Ip, Yuen K

    2018-05-20

    Giant clams harbor symbiotic zooxanthellae (Symbiodinium), which are nitrogen-deficient, mainly in the fleshy and colorful outer mantle. This study aimed to sequence and characterize the algal Glutamine Synthetase (GS) and Glutamate Synthase (GLT), which constitute the glutamate synthase cycle (or GS-GOGAT cycle, whereby GOGAT is the protein acronym of GLT) of nitrogen assimilation, from the outer mantle of the fluted giant clam, Tridacna squamosa. We had identified a novel GS-like cDNA coding sequence of 2325 bp, and named it as T. squamosa Symbiodinium GS1 (TSSGS1). The deduced TSSGS1 sequence had 774 amino acids with a molecular mass of 85 kDa, and displayed the characteristics of GS1 and Nucleotide Diphosphate Kinase. The cDNA coding sequence of the algal GLT, named as T. squamosa Symbiodinium GLT (TSSGLT), comprised 6399 bp, encoding a protein of 2133 amino acids and 232.4 kDa. The zooxanthellal origin of TSSGS1 and TSSGOGAT was confirmed by sequence comparison and phylogenetic analyses. Indeed, TSSGS1 and TSSGOGAT were expressed predominately in the outer mantle, which contained the majority of the zooxanthellae. Immunofluorescence microscopy confirmed the expression of TSSGS1 and TSSGOGAT in the cytoplasm and the plastids, respectively, of the zooxanthellae in the outer mantle. It can be concluded that the symbiotic zooxanthellae of T. squamosa possesses a glutamate synthase (TSSGS1-TSSGOGAT) cycle that can assimilate endogenous ammonia produced by the host clam into glutamate, which can act as a substrate for amino acid syntheses. Thus, our results provide insights into why intact giant clam-zooxanthellae associations do not excrete ammonia under normal circumstances. Copyright © 2018 Elsevier B.V. All rights reserved.

  4. Gorlin syndrome and bilateral ovarian fibroma

    Science.gov (United States)

    Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

    2012-01-01

    INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908

  5. 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

  6. Photometry of the three eclipsing novalike variables EC 21178-5417, GS Pav and V345 Pav

    Science.gov (United States)

    Bruch, Albert

    2017-10-01

    As part of a project to better characterize comparatively bright, yet little studied cataclysmic variables time resolved photometry of the three eclipsing novalike variables EC 21178-5417, GS Pav und V345 Pav is presented. Previously known orbital periods are significantly improved and long-term ephemeris are derived. Variations of eclipse profiles, occurring on time scales of days to weeks, are analyzed. Out of eclipse the light curves are characterized by low scale flickering superposed on more gradual variations with amplitudes limited to a few tenths of a magnitude and profiles which at least in EC 21178-5417 and GS Pav roughly follow the same pattern in all observed cycles. Additionally, signs for variations on the time scale of some tens of minutes are seen in GS Pav, most clearly in two subsequent nights when in the first of these a signal with a period of 15.7 min was observed over several hours. In the second night variations with twice this period were seen. While no additional insight could be gained on quasi periodic oscillations (QPOs) and dwarf nova oscillations in EC 21178-5417, previously detected by Warner et al. (2003), and while such oscillations could not be found in V345 Pav, stacked power spectra of GS Pav clearly reveal the presence of QPOs over time intervals of several hours with periods varying between 200 s and 500 s in that system.

  7. MAXI/GSC detection of a hard-to-soft transition of NS-LMXB GS 1826-238

    Science.gov (United States)

    Nakahira, S.; Mihara, T.; Sugizaki, M.; Serino, M.; Morii, M.; Sugimoto, J.; Takagi, T.; Yoshikawa, A.; Matsuoka, M.; Kawai, N.; Yoshii, T.; Tachibana, Y.; Ueno, S.; Tomida, H.; Kimura, M.; Ishikawa, M.; Nakagawa, Y. E.; Negoro, H.; Nakajima, M.; Fukushima, K.; Onodera, T.; Suzuki, K.; Fujita, M.; Namba, T.; Honda, F.; Yoshida, A.; Sakamoto, T.; Kawakubo, Y.; Ohtsuki, H.; Tsunemi, H.; Uchida, D.; Ueda, Y.; Shidatsu, M.; Kawamuro, T.; Hori, T.; Kawagoe, A.; Tsuboi, Y.; Yamauchi, M.; Morooka, Y.; Yamaoka, K.

    2014-06-01

    We report on a hard-to-soft spectral transition of an X-ray burster GS 1826-238 detected with MAXI/GSC. This source had been consistently observed in the hard state for more than 25 years since the discovery in 1988 (Tanaka 1989, Barret et al. ...

  8. An 11b 3.6GS/s time-Iiterleaved SAR ADC in 65nm CMOS

    NARCIS (Netherlands)

    Janssen, E.J.G.; Doris, K.; Zanikopoulos, A.; Murroni, A.; Weide, van der G.; Lin, Y.; Alvado, L.; Darthenay, F.; Fregeais, Y.

    2013-01-01

    Over the last years several low-power time-interleaved (TI) ADC designs in the 2.5-to-3.0GS/s range have been published [1-3], intended for integration in applications like radar, software-defined radio, full-spectrum cable modems, and multi-channel satellite reception. It is to be expected that

  9. Genome Sequence of Aeribacillus pallidus Strain GS3372, an Endospore-Forming Bacterium Isolated in a Deep Geothermal Reservoir

    OpenAIRE

    Sevasti Filippidou; Marion Jaussi; Thomas Junier; Tina Wunderlin; Nicole Jeanneret; Simona Regenspurg; Po-E Li; Chien-Chi Lo; Shannon Johnson; Kim McMurry; Cheryl D. Gleasner; Momchilo Vuyisich; Patrick S. Chain; Pilar Junier

    2015-01-01

    The genome of strain GS3372 is the first publicly available strain of Aeribacillus pallidus. This endospore-forming thermophilic strain was isolated from a deep geothermal reservoir. The availability of this genome can contribute to the clarification of the taxonomy of the closely related Anoxybacillus, Geobacillus, and Aeribacillus genera.

  10. Genome Sequence of Aeribacillus pallidus Strain GS3372, an Endospore-Forming Bacterium Isolated in a Deep Geothermal Reservoir.

    Science.gov (United States)

    Filippidou, Sevasti; Jaussi, Marion; Junier, Thomas; Wunderlin, Tina; Jeanneret, Nicole; Regenspurg, Simona; Li, Po-E; Lo, Chien-Chi; Johnson, Shannon; McMurry, Kim; Gleasner, Cheryl D; Vuyisich, Momchilo; Chain, Patrick S; Junier, Pilar

    2015-08-27

    The genome of strain GS3372 is the first publicly available strain of Aeribacillus pallidus. This endospore-forming thermophilic strain was isolated from a deep geothermal reservoir. The availability of this genome can contribute to the clarification of the taxonomy of the closely related Anoxybacillus, Geobacillus, and Aeribacillus genera. Copyright © 2015 Filippidou et al.

  11. 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...... in the maintenance and protection of the renal microvascular endothelium....

  12. Nustar Detection of Hard X-Ray Phase Lags from the Accreting Pulsar GS 0834-430

    DEFF Research Database (Denmark)

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

    2013-01-01

    The Nuclear Spectroscopic Telescope Array hard X-ray telescope observed the transient Be/X-ray binary GS 0834-430 during its 2012 outburst-the first active state of this system observed in the past 19 yr. We performed timing and spectral analysis and measured the X-ray spectrum between 3-79 keV w...

  13. 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

  14. 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

    2017-05-01

    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. © 2016 The Australasian College of Dermatologists.

  15. The mechano-gated channel inhibitor GsMTx4 reduces the exercise pressor reflex in decerebrate rats.

    Science.gov (United States)

    Copp, Steven W; Kim, Joyce S; Ruiz-Velasco, Victor; Kaufman, Marc P

    2016-02-01

    Mechanical and metabolic stimuli from contracting muscles evoke reflex increases in blood pressure, heart rate and sympathetic nerve activity. Little is known, however, about the nature of the mechano-gated channels on the thin fibre muscle afferents that contribute to evoke this reflex, termed the exercise pressor reflex. We determined the effect of GsMTx4, an inhibitor of mechano-gated Piezo channels, on the exercise pressor reflex evoked by intermittent contraction of the triceps surae muscles in decerebrated, unanaesthetized rats. GsMTx4 reduced the pressor, cardioaccelerator and renal sympathetic nerve responses to intermittent contraction but did not reduce the pressor responses to femoral arterial injection of compounds that stimulate the metabolically-sensitive thin fibre muscle afferents. Expression levels of Piezo2 channels were greater than Piezo1 channels in rat dorsal root ganglia. Our findings suggest that mechanically-sensitive Piezo proteins contribute to the generation of the mechanical component of the exercise pressor reflex in rats. Mechanical and metabolic stimuli within contracting skeletal muscles evoke reflex autonomic and cardiovascular adjustments. In cats and rats, gadolinium has been used to investigate the role played by the mechanical component of this reflex, termed the exercise pressor reflex. Gadolinium, however, has poor selectivity for mechano-gated channels and exerts multiple off-target effects. We tested the hypothesis that GsMTX4, a more selective mechano-gated channel inhibitor than gadolinium and a particularly potent inhibitor of mechano-gated Piezo channels, reduced the exercise pressor reflex in decerebrate rats. Injection of 10 μg of GsMTx4 into the arterial supply of the hindlimb reduced the peak pressor (control: 24 ± 5, GsMTx4: 12 ± 5 mmHg, P acid. Moreover, injection of 10 μg of GsMTx4 into the arterial supply of the hindlimb reduced the peak pressor (control: 24 ± 2, GsMTx4: 14 ± 3 mmHg, P reflex in

  16. 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," ...

  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. Development of a 1 GS/s high-resolution transient recorder

    CERN Document Server

    Bartknecht, S; Herrmann, F; Königsmann, K; Lauser, L; Schill, C; Schopferer, S; Wollny, H

    2009-01-01

    With present-day detectors in high energy physics one is often faced with short analog pulses of a few nanoseconds length which may cover large dynamic ranges. In many experiments both amplitude and timing information have to be measured with high accuracy. Additionally, the data rate per readout channel can reach several MHz, which makes high demands on the separation of pile-up pulses. For such applications we have built the GANDALF transient recorder with a resolution of 12bit@1GS/s and an analog bandwidth of 500 MHz. Signals are digitized and processed by fast algorithms to extract pulse arrival times and amplitudes in real-time and to generate experiment trigger signals. With up to 16 analog channels, deep memories and a high data rate interface, this 6U-VME64x/VXS module is not only a dead-time free digitization unit but also has huge numerical capabilities provided by the implementation of a Virtex5-SXT FPGA. Fast algorithms implemented in the FPGA may be used to disentangle possible pile-up pulses and...

  19. 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 ...

  20. Detection of high GS risk group prostate tumors by diffusion tensor imaging and logistic regression modelling.

    Science.gov (United States)

    Ertas, Gokhan

    2018-07-01

    To assess the value of joint evaluation of diffusion tensor imaging (DTI) measures by using logistic regression modelling to detect high GS risk group prostate tumors. Fifty tumors imaged using DTI on a 3 T MRI device were analyzed. Regions of interests focusing on the center of tumor foci and noncancerous tissue on the maps of mean diffusivity (MD) and fractional anisotropy (FA) were used to extract the minimum, the maximum and the mean measures. Measure ratio was computed by dividing tumor measure by noncancerous tissue measure. Logistic regression models were fitted for all possible pair combinations of the measures using 5-fold cross validation. Systematic differences are present for all MD measures and also for all FA measures in distinguishing the high risk tumors [GS ≥ 7(4 + 3)] from the low risk tumors [GS ≤ 7(3 + 4)] (P Logistic regression modelling provides a favorable solution for the joint evaluations easily adoptable in clinical practice. Copyright © 2018 Elsevier Inc. All rights reserved.

  1. A 6-bit 4 GS/s pseudo-thermometer segmented CMOS DAC

    Science.gov (United States)

    Yijun, Song; Wenyuan, Li

    2014-06-01

    A 6-bit 4 GS/s, high-speed and power-efficient DAC for ultra-high-speed transceivers in 60 GHz band millimeter wave technology is presented. A novel pseudo-thermometer architecture is proposed to realize a good compromise between the fast conversion speed and the chip area. Symmetrical and compact floor planning and layout techniques including tree-like routing, cross-quading and common-centroid method are adopted to guarantee the chip is fully functional up to near-Nyquist frequency in a standard 0.18 μm CMOS process. Post simulation results corroborate the feasibility of the designed DAC, which canperform good static and dynamic linearity without calibration. DNL errors and INL errors can be controlled within ±0.28 LSB and ±0.26 LSB, respectively. SFDR at 4 GHz clock frequency for a 1.9 GHz near-Nyquist sinusoidal output signal is 40.83 dB and the power dissipation is less than 37 mW.

  2. A 6-bit 4 GS/s pseudo-thermometer segmented CMOS DAC

    International Nuclear Information System (INIS)

    Song Yijun; Li Wenyuan

    2014-01-01

    A 6-bit 4 GS/s, high-speed and power-efficient DAC for ultra-high-speed transceivers in 60 GHz band millimeter wave technology is presented. A novel pseudo-thermometer architecture is proposed to realize a good compromise between the fast conversion speed and the chip area. Symmetrical and compact floor planning and layout techniques including tree-like routing, cross-quading and common-centroid method are adopted to guarantee the chip is fully functional up to near-Nyquist frequency in a standard 0.18 μm CMOS process. Post simulation results corroborate the feasibility of the designed DAC, which canperform good static and dynamic linearity without calibration. DNL errors and INL errors can be controlled within ±0.28 LSB and ±0.26 LSB, respectively. SFDR at 4 GHz clock frequency for a 1.9 GHz near-Nyquist sinusoidal output signal is 40.83 dB and the power dissipation is less than 37 mW. (semiconductor integrated circuits)

  3. 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.

  4. Quaternary structure of a G-protein-coupled receptor heterotetramer in complex with Gi and Gs.

    Science.gov (United States)

    Navarro, Gemma; Cordomí, Arnau; Zelman-Femiak, Monika; Brugarolas, Marc; Moreno, Estefania; Aguinaga, David; Perez-Benito, Laura; Cortés, Antoni; Casadó, Vicent; Mallol, Josefa; Canela, Enric I; Lluís, Carme; Pardo, Leonardo; García-Sáez, Ana J; McCormick, Peter J; Franco, Rafael

    2016-04-05

    G-protein-coupled receptors (GPCRs), in the form of monomers or homodimers that bind heterotrimeric G proteins, are fundamental in the transfer of extracellular stimuli to intracellular signaling pathways. Different GPCRs may also interact to form heteromers that are novel signaling units. Despite the exponential growth in the number of solved GPCR crystal structures, the structural properties of heteromers remain unknown. We used single-particle tracking experiments in cells expressing functional adenosine A1-A2A receptors fused to fluorescent proteins to show the loss of Brownian movement of the A1 receptor in the presence of the A2A receptor, and a preponderance of cell surface 2:2 receptor heteromers (dimer of dimers). Using computer modeling, aided by bioluminescence resonance energy transfer assays to monitor receptor homomerization and heteromerization and G-protein coupling, we predict the interacting interfaces and propose a quaternary structure of the GPCR tetramer in complex with two G proteins. The combination of results points to a molecular architecture formed by a rhombus-shaped heterotetramer, which is bound to two different interacting heterotrimeric G proteins (Gi and Gs). These novel results constitute an important advance in understanding the molecular intricacies involved in GPCR function.

  5. The NASA competitive placement plan for positions GS-15 and below (including trades and labor positions)

    Science.gov (United States)

    1993-01-01

    This plan provides the framework for selection based on merit from among the best qualified candidates available. Selections will be made without regard to political, religious, or labor organization affiliation or nonaffiliation, marital status, race, color, sex, national origin, nondisqualifying disability, or age. This plan does not guarantee promotion but rather ensures that all qualified available candidates receive fair and equitable consideration for positions filled under these competitive procedures. Announcing a vacancy under this plan is only one method of locating applicants for a position and can be used in conjunction with other methods. Subject to applicable law and regulation, selection of an individual to fill a position is the decision of management, as is the decision as to the method(s) to be used in identifying candidates. This plan is applicable to all NASA Installations. It covers all positions in the competitive service at (and below) the GS/GM-15 level (including all trades and labor positions), except positions in the Office of the Inspector General. The requirements herein are not intended to, nor should they be construed to limit in any way, the independent personnel authority of the Inspector General under the Inspector General Act, as Amended.

  6. S08: investigation and repair of a cracked feeder at Point Lepreau GS

    International Nuclear Information System (INIS)

    A Celovsky, A.; Wright, M.D.; Gendron, T.S.

    1997-01-01

    Early in 1997 investigation of a low level leak in the Point Lepreau GS (PLGS) PHTS revealed that an outlet feeder, S08, was leaking. Ultrasonic inspection, and subsequent failure analysis, revealed that the leak was a consequence of a crack. Given the unusual nature of this event, and current concerns over feeder thinning, a detailed and careful removal and examination procedure was developed. The S08 outlet feeder was removed and shipped to Chalk River Laboratories for examination. The examination confirmed that the failure was a through-wall crack, most likely the consequence of stress corrosion cracking. A critical point of the analysis was to determine how the crack initiated, and subsequently propagated. High residual stresses and possible abnormal loading in conjunction with chemistry environments resulted in the Stress Corrosion Cracking (SCC) of the S08 outlet feeder bend. It is recognized that some of the causative factors implicated in the S08 failure apply to other outlet feeders. In particular, residual stresses in the non-stress-relieved, short-radius cold bent pipes will remain relatively high over the future life of the feeders. However, the risk of CANDU feeder failure by SCC is judged to be extremely low based on the evidence of the inspections carried out to date and the good performance record of feeder pipe in the CANDU industry. The channel was restored to its locked configuration, and the failed section of feeder replaced. (author)

  7. 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

  8. Potent inhibitory effects of D-tagatose on the acid production and water-insoluble glucan synthesis of Streptococcus mutans GS5 in the presence of sucrose.

    Science.gov (United States)

    Sawada, Daijo; Ogawa, Takaaki; Miyake, Minoru; Hasui, Yoshinori; Yamaguchi, Fuminori; Izumori, Ken; Tokuda, Masaaki

    2015-01-01

    We examined and compared the inhibitory effects of D-tagatose on the growth, acid production, and water-insoluble glucan synthesis of GS5, a bacterial strain of Streptococcus mutans, with those of xylitol, D-psicose, L-psicose and L-tagatose. GS5 was cultured for 12h in a medium containing 10% (w/v) of xylitol, D-psicose, L-psicose, D-tagatose or L-tagatose, and the inhibitory effect of GS5 growth was assessed. Each sugar showed different inhibitory effects on GS5. Both D-tagatose and xylitol significantly inhibited the acid production and water-insoluble glucan synthesis of GS5 in the presence of 1% (w/v) sucrose. However, the inhibitory effect of acid production by D-tagatose was significantly stronger than that of xylitol in presence of sucrose.

  9. 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. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  10. RBiomirGS: an all-in-one miRNA gene set analysis solution featuring target mRNA mapping and expression profile integration

    Directory of Open Access Journals (Sweden)

    Jing Zhang

    2018-01-01

    Full Text Available Background With the continuous discovery of microRNA’s (miRNA association with a wide range of biological and cellular processes, expression profile-based functional characterization of such post-transcriptional regulation is crucial for revealing its significance behind particular phenotypes. Profound advancement in bioinformatics has been made to enable in depth investigation of miRNA’s role in regulating cellular and molecular events, resulting in a huge quantity of software packages covering different aspects of miRNA functional analysis. Therefore, an all-in-one software solution is in demand for a comprehensive yet highly efficient workflow. Here we present RBiomirGS, an R package for a miRNA gene set (GS analysis. Methods The package utilizes multiple databases for target mRNA mapping, estimates miRNA effect on the target mRNAs through miRNA expression profile and conducts a logistic regression-based GS enrichment. Additionally, human ortholog Entrez ID conversion functionality is included for target mRNAs. Results By incorporating all the core steps into one package, RBiomirGS eliminates the need for switching between different software packages. The modular structure of RBiomirGS enables various access points to the analysis, with which users can choose the most relevant functionalities for their workflow. Conclusions With RBiomirGS, users are able to assess the functional significance of the miRNA expression profile under the corresponding experimental condition by minimal input and intervention. Accordingly, RBiomirGS encompasses an all-in-one solution for miRNA GS analysis. RBiomirGS is available on GitHub (http://github.com/jzhangc/RBiomirGS. More information including instruction and examples can be found on website (http://kenstoreylab.com/?page_id=2865.

  11. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  12. Exploring bacterial diversity in hospital environments by GS-FLX Titanium pyrosequencing.

    Directory of Open Access Journals (Sweden)

    Margarita Poza

    Full Text Available Understanding microbial populations in hospital environments is crucial for improving human health. Hospital-acquired infections are an increasing problem in intensive care units (ICU. In this work we present an exploration of bacterial diversity at inanimate surfaces of the ICU wards of the University Hospital A Coruña (Spain, as an example of confined hospital environment subjected to selective pressure, taking the entrance hall of the hospital, an open and crowded environment, as reference. Surface swab samples were collected from both locations and recovered DNA used as template to amplify a hypervariable region of the bacterial 16S rRNA gene. Sequencing of the amplicons was performed at the Roche 454 Sequencing Center using GS-FLX Titanium procedures. Reads were pre-processed and clustered into OTUs (operational taxonomic units, which were further classified. A total of 16 canonical bacterial phyla were detected in both locations. Members of the phyla Firmicutes (mainly Staphylococcus and Streptococcus and Actinobacteria (mainly Micrococcaceae, Corynebacteriaceae and Brevibacteriaceae were over-represented in the ICU with respect to the Hall. The phyllum Proteobacteria was also well represented in the ICU, mainly by members of the families Enterobacteriaceae, Methylobacteriaceae and Sphingomonadaceae. In the Hall sample, the phyla Proteobacteria, Bacteroidetes, Deinococcus-Thermus and Cyanobacteria were over-represented with respect to the ICU. Over-representation of Proteobacteria was mainly due to the high abundance of Enterobacteriaceae members. The presented results demonstrate that bacterial diversity differs at the ICU and entrance hall locations. Reduced diversity detected at ICU, relative to the entrance hall, can be explained by its confined character and by the existence of antimicrobial selective pressure. This is the first study using deep sequencing techniques made in hospital wards showing substantial hospital microbial

  13. Exploring bacterial diversity in hospital environments by GS-FLX Titanium pyrosequencing.

    Science.gov (United States)

    Poza, Margarita; Gayoso, Carmen; Gómez, Manuel J; Rumbo-Feal, Soraya; Tomás, María; Aranda, Jesús; Fernández, Ana; Bou, Germán

    2012-01-01

    Understanding microbial populations in hospital environments is crucial for improving human health. Hospital-acquired infections are an increasing problem in intensive care units (ICU). In this work we present an exploration of bacterial diversity at inanimate surfaces of the ICU wards of the University Hospital A Coruña (Spain), as an example of confined hospital environment subjected to selective pressure, taking the entrance hall of the hospital, an open and crowded environment, as reference. Surface swab samples were collected from both locations and recovered DNA used as template to amplify a hypervariable region of the bacterial 16S rRNA gene. Sequencing of the amplicons was performed at the Roche 454 Sequencing Center using GS-FLX Titanium procedures. Reads were pre-processed and clustered into OTUs (operational taxonomic units), which were further classified. A total of 16 canonical bacterial phyla were detected in both locations. Members of the phyla Firmicutes (mainly Staphylococcus and Streptococcus) and Actinobacteria (mainly Micrococcaceae, Corynebacteriaceae and Brevibacteriaceae) were over-represented in the ICU with respect to the Hall. The phyllum Proteobacteria was also well represented in the ICU, mainly by members of the families Enterobacteriaceae, Methylobacteriaceae and Sphingomonadaceae. In the Hall sample, the phyla Proteobacteria, Bacteroidetes, Deinococcus-Thermus and Cyanobacteria were over-represented with respect to the ICU. Over-representation of Proteobacteria was mainly due to the high abundance of Enterobacteriaceae members. The presented results demonstrate that bacterial diversity differs at the ICU and entrance hall locations. Reduced diversity detected at ICU, relative to the entrance hall, can be explained by its confined character and by the existence of antimicrobial selective pressure. This is the first study using deep sequencing techniques made in hospital wards showing substantial hospital microbial diversity.

  14. Resonant cell of a double nuclear electron resonance spectrometer for performance in a 120-350 Gs magnetic field

    International Nuclear Information System (INIS)

    Baldin, V.I.; Stepanov, A.P.

    1976-01-01

    Spectrometer double-frequency resonance cell construction of a double nuclear electron resonance for operation in 120-350 Gs magnetic fields is described. The cell has been developed from a special decimeter resonator with a concentrated capacitance. The electric and magnetic components of a high frequency field are efficiently divided in the separator. Therefore, the insertion of a measuring coil and a sample in the maximum of the magnetic component of the field does not practically affect the distribution and parameters of the high-frequency field. The double-frequency resonance cell proposed provides for a higher accuracy of measuring amplifications of the nuclear magnetic resonance signals when there is the overhauzer effect for 120-350 Gs magnetic fields

  15. Studies on silicone based antifoaming agents to be used in G.S. (Girlder sulfide) heavy water plants

    International Nuclear Information System (INIS)

    Delfino, C.A.

    1986-01-01

    In Girlder sulfide (G.S.) heavy water plants hydrogen sulfide-water systems are inherentely foaming, so the adding of antifoaming materials is of great importance. These may be of high volatility, pyrolizable or chemically unstable in plant operation conditions (water and hydrogen sulfide at 2MPa, up to 230 deg C). Six commercial silicone based antifoaming agents were studied from the point of view of their chemical and thermical stability in order to select the most suitable. (Author) [es

  16. Antifoaming materials studies in G.S. (Girlder sulfide) heavy water plants. Chemical and thermical stability. Pt. 3

    International Nuclear Information System (INIS)

    Delfino, C.A.; Rojo, E.A.

    1988-01-01

    In Girlder sulfide (G.S.) heavy water plants hydrogen sulfide-water systems are inherentely foaming, so the adding of antifoaming materials is of great importance. These may be of high volatility, pyrolizable or chemically unstable in plant operation conditions (water and hydrogen sulfide at 2 MPa, up to 230 deg C). Five commercial surfactants were studied from the point of view of their chemical and thermical stability in order to select the most suitable. (Author) [es

  17. Effect of transfer of donor corneal tissue from McCarey–Kaufmann medium to Optisol-GS on corneal endothelium

    Directory of Open Access Journals (Sweden)

    Neha Kapur

    2018-01-01

    Full Text Available Purpose: The purpose of this study is to evaluate the effect of transfer of donor corneal tissue from McCarey–Kaufmann (MK medium to Optisol-GS on corneal endothelium. Methods: This was a prospective, randomized comparative study. Twenty paired human donor corneal tissues of optical quality were retrieved. One tissue of the pair was preserved in Optisol-GS preservative medium (Group A and other tissue of the pair in MK medium (Group B at the time of corneoscleral disc excision. Within 12 h of retrieval, each cornea was evaluated using slit-lamp biomicroscopic examination and specular microscopic analysis. Group B corneas were transferred to Optisol-GS medium within 48–53 h of retrieval. Specular analysis of the paired corneas was repeated 3 h after transferring to Optisol-GS. On day 7 of storage, specular analysis of both the tissues was repeated. Results: The average age of the donor at the time of death was 29 years (16–68 years. The reduction in endothelial cell count, from baseline, in Groups A and B was 5.5% and 5.8% (P = 0.938 on the 3rd day and 8.2% and 12.6% (P = 0.025 on the 7th day, respectively, postretrieval. The coefficient of variation (CV increased by 36% (P = 0.021 and hexagonality reduced by 19% (P = 0.007 on day 7. All tissues retained an endothelial cell density higher than the accepted critical level for penetrating keratoplasty. Conclusion: Significant endothelial cell loss was noted while transferring tissues from one medium to another, necessitating the need for reevaluation of transferred tissues before utilization.

  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 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.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.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 as a composite variable, which can be used as a pre-symptomatic marker for

  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. Implementation of a management system in accordance with IAEA GS-R-3 Standard. A gap analysis

    International Nuclear Information System (INIS)

    Dicianu, I.; Oprea, M.

    2009-01-01

    Full text: The design and implementation of an Integrated Management System at SNN SA Headquarters become necessary as the CNCAN norms are already under revision to comply with the IAEA GS-R-3 standard. The purpose of this analysis is to draft a project for the transition from a Quality Management System (QMS) to an Integrated Management System (IMS) complying with GS-R-3 requirements. Four steps were identified for developing this project: STEP1 - To justify the necessity of the IMS implementation to meet the SNN SA Headquarters Top Management commitments. The requirements for implementing an IMS are analyzed and a comprehensive document is issued to (and maybe discussed with) SNN General Director in order to obtain the top management adherence/commitment to the project implementation. The document will show the strong and the weak points which should be considered in developing the project. The references for the project are: - IAEA Safety Standard GS-R-3 'The Management System for Facilities and Activities'; - ISO - 1400/2004 Standard 'Environmental Management System Requirements'; - OHSAS 18001/2007 Standard 'Occupational Health and Safety Management Systems. Requirements'; There are also considered: - IAEA Safety Guide GS-G-3.1 'Application of the Management System for Facilities and Activities'; - IAEA Draft Safety Guide DS-349 'Application of the Management System for Nuclear Facilities; There will be considered: Workshop 2 Bookmarks (F5) 2 - CNCAN Norms (as they will be revised); STEP2 - The performance of a comparative analysis of the requirements of GS-R-3, ISO 14001 and OHSAS 18001 versus the provisions of the QMS already implemented in SNN. This analysis is shown as a comparative table; STEP3 - Identification of the IMS processes. An overall analysis of the current processes described in the SNN QMS Manual is performed and based on this. There are identified the additional processes that have to be documented for the proper implementation of an IMS

  1. Cushing syndrome

    Science.gov (United States)

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

  2. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  3. Total ginsenosides synergize with ulinastatin against septic acute lung injury and acute respir atory distress syndrome

    Science.gov (United States)

    Sun, Rongju; Li, Yana; Chen, Wei; Zhang, Fei; Li, Tanshi

    2015-01-01

    Total ginsenosides synergize with ulinastatin (UTI) against septic acute lung injury (ALI) and acute respiratory distress syndrome (ARDS). We randomly divided 80 cases of severe sepsis-induced ALI and ARDS into a UTI group and a ginsenosides (GS)+UTI group. Continuous electrocardiac monitoring of pulse, respiratory rate, blood pressure, and heart rate; invasive hemodynamic monitoring; ventilator-assisted breathing and circulation support; and anti-infection as well as UTI treatment were given in the UTI group with GS treatment added for 7 consecutive days in the GS+UTI group. The indicators of pulmonary vascular permeability, pulmonary circulation, blood gases, and hemodynamics as well as APACHE II and ALI scores were detected on days 1, 3, and 7. The ALI score in the GS+UTI group was significantly decreased (P UTI group, and the indicators of pulmonary capillary permeability such as pulmonary vascular permeability index, extravascular lung water index, and oxygenation index, in the GS+UTI group improved significantly more than that of the UTI group. The indicators of hemodynamics and pulmonary circulation such as cardiac index, intrathoracic blood volume index, and central venous pressure improved significantly (P UTI group was lower than that of the UTI group. GS can effectively collaborate with UTI against ALI and/or ARDS. PMID:26261640

  4. Gitelman syndrome : consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

    NARCIS (Netherlands)

    Blanchard, Anne; Bockenhauer, Detlef; Bolignano, Davide; Calò, Lorenzo A; Cosyns, Etienne; Devuyst, Olivier; Ellison, David H; Karet Frankl, Fiona E; Knoers, Nine V A M; Konrad, Martin; Lin, Shih-Hua; Vargas-Poussou, Rosa

    Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride

  5. 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.

  6. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  7. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  8. A 12b 2.9GS/s DAC with IM3>60dB beyond 1 GHz in 65nm CMOS

    NARCIS (Netherlands)

    Lin, C.H.; Goes, F.; Westra, J.; Mulder, J.; Lin, Y.; Arslan, E.; Ayranci, E.; Liu, X.; Bult, K.

    2009-01-01

    A 12b 2.9GS/s current-steering DAC implemented in 65nm CMOS is presented, with an IM3 «-60dBc beyond 1GHz while driving a 50¿ load with an output swing of 2.5Vpp-diff and dissipating a power of 188mW. The SFDR measured at 2.9GS/s is better than 60dB beyond 340MHz.

  9. Gilbert’s Syndrome: Terminology, Epidemiology, Genetics, Pathogenesis (Part I

    Directory of Open Access Journals (Sweden)

    T.V. Sorokman

    2016-11-01

    Full Text Available The aim of the review was the analysis of the literature about the prevalence, etiology, genetics and pathogenesis of Gilbert’s syndrome (GS. The scientific literature regarding GS with the keywords «Gilbert's syndrome», «hyperbilirubinemia», «uridine diphosphate glucuronosyltransferase (UGT-1A» using PubMed as a search engine was reviewed. The abstracts of 75 articles, based on investigations held within the last 10 years were analyzed. The criterion for the selection of articles for the study was based on their close relevance to the topic. The results of researches covered in 10 articles and two reports were of the top interest and deep study. In medical litera­ture GS is described under the names of different syndromes: Gilbert’s syndrome, Meulengracht’s syndrome, Gilbert — Meulengracht syndrome, Gilbert — Lereboullet syndrome, and also such as: constitutional hepatic dysfunction, familial nonhemolytic jaundice, Gilbert’s type of hyperbilirubinemia, idiopathic unconjugated hyperbilirubinemia, Crigler — Najjar hyperbilirubinemia, Arias’ type (HBLRCN, hyperbilirubinemia I. GS is a predominantly hereditary unconjugated hyperbilirubinemia associated with the reduced activity of uridine diphosphate glucuronosyltransferase (UGT-1A in liver, which is encrypted in external resources as ICD-10 — E80.4; OMIM — 143500; DiseasesDB — 5218; MedlinePlus — 000301; eMedici­nemed — 870; MeSHD — 005878. UGT-1A isoforms are found in different parts of the gastrointestinal tract (UGT1A1, UGT1A3, UGT1A4, UGT1A6, in the li­ver — UGT1A9, in the esophagus and stomach — UGT1A7, in the esophagus and intestines — UGT1A8, in the esophagus, bile ducts, stomach, intestines — UGT1A10, in kidneys — UGT1A19. The patients with GS have signs of disorders in all phases of metabolism of bilirubin — from its production to excretion: the lack of bilitranslocase which is responsible for the capture of bilirubin from the blood

  10. The kinetics of oocyst shedding and sporulation in two immunologically distinct strains of Eimeria maxima, GS and M6.

    Science.gov (United States)

    Al-Badri, Riadh; Barta, John Robert

    2012-11-01

    The kinetics of oocyst shedding and sporulation of two immunologically distinct strains of Eimeria maxima (GS and M6) were compared. Both strains had a prepatent period of approximately 120 h followed by peak oocyst shedding at 144-150 h post inoculation. Mean total oocyst output determined for each strain demonstrated that the fecundity of the M6 strain (12.8 × 10(3) ± 1.95) of E. maxima was roughly twice that of the GS strain (6.9 × 10(3) ± 3.33) when inoculated at the rate of 1,000 infective oocysts per bird. The process of oocyst sporulation was followed by repetitive sampling of sporulating oocysts at 26 °C with aeration over a 138 hour period. Sporulation was divided into five morphologically distinguishable stages whose abundance peaked at the following times during sporulation: unsporulated oocysts at 0 h; sporoblast anlagen at 18 h; sporoblasts without sporocyst walls at 22 h; and sporocysts without mature sporozoites at 38 h. The time to 50 % sporulation of E. maxima oocysts observed in the present study was approximately 53 h for both strains and all viable oocysts had completed sporulation by 60 h. In the present study, the prepatent periods, duration of oocyst shedding, and the relative kinetics of sporulation of the GS and M6 strains of E. maxima were found to be virtually identical despite the immunological distinctiveness of these two parasite strains.

  11. Structural flexibility of the G alpha s alpha-helical domain in the beta2-adrenoceptor Gs complex

    DEFF Research Database (Denmark)

    Westfield, Gerwin H; Rasmussen, Søren Gøgsig Faarup; Su, Min

    2011-01-01

    The active-state complex between an agonist-bound receptor and a guanine nucleotide-free G protein represents the fundamental signaling assembly for the majority of hormone and neurotransmitter signaling. We applied single-particle electron microscopy (EM) analysis to examine the architecture...... of agonist-occupied β(2)-adrenoceptor (β(2)AR) in complex with the heterotrimeric G protein Gs (Gαsβγ). EM 2D averages and 3D reconstructions of the detergent-solubilized complex reveal an overall architecture that is in very good agreement with the crystal structure of the active-state ternary complex...

  12. Encryption and display of multiple-image information using computer-generated holography with modified GS iterative algorithm

    Science.gov (United States)

    Xiao, Dan; Li, Xiaowei; Liu, Su-Juan; Wang, Qiong-Hua

    2018-03-01

    In this paper, a new scheme of multiple-image encryption and display based on computer-generated holography (CGH) and maximum length cellular automata (MLCA) is presented. With the scheme, the computer-generated hologram, which has the information of the three primitive images, is generated by modified Gerchberg-Saxton (GS) iterative algorithm using three different fractional orders in fractional Fourier domain firstly. Then the hologram is encrypted using MLCA mask. The ciphertext can be decrypted combined with the fractional orders and the rules of MLCA. Numerical simulations and experimental display results have been carried out to verify the validity and feasibility of the proposed scheme.

  13. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  14. 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.

  15. 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.

  16. A combined coalescence gene-dropping tool for evaluating genomic selection in complex scenarios (ms2gs).

    Science.gov (United States)

    Pérez-Enciso, M; Legarra, A

    2016-04-01

    We present ms2gs, a combined coalescence - gene dropping (i.e. backward-forward) simulator for complex traits. It therefore aims at combining the advantages of both approaches. It is primarily conceived for very short term, recent scenarios such as those that are of interest in animal and plant breeding. It is very flexible in terms of defining QTL architecture and SNP ascertainment bias, and it allows for easy modelling of alternative markers such as RADs. It can use real sequence or chip data or generate molecular polymorphisms via the coalescence. It can generate QTL conditional on extant molecular information, such as low-density genotyping. It models (simplistically) sequence, imputation or genotyping errors. It requires as input both genotypic data in plink or ms formats, and a pedigree that is used to perform the gene dropping. By default, it compares accuracy for BLUP, SNP ascertained data, sequence, and causal SNPs. It employs VanRaden's linear (GBLUP) and nonlinear method for incorporating molecular information. To illustrate the program, we present a small application in a half-sib population and a multiparental (MAGIC) cross. The program, manual and examples are available at https://github.com/mperezenciso/ms2gs. © 2016 Blackwell Verlag GmbH.

  17. 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

  18. 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.

  19. Piezo channels and GsMTx4: Two milestones in our understanding of excitatory mechanosensitive channels and their role in pathology.

    Science.gov (United States)

    Suchyna, Thomas M

    2017-11-01

    Discovery of Piezo channels and the reporting of their sensitivity to the inhibitor GsMTx4 were important milestones in the study of non-selective cationic mechanosensitive channels (MSCs) in normal physiology and pathogenesis. GsMTx4 had been used for years to investigate the functional role of cationic MSCs, especially in muscle tissue, but with little understanding of its target or inhibitory mechanism. The sensitivity of Piezo channels to bilayer stress and its robust mechanosensitivity when expressed in heterologous systems were keys to determining GsMTx4's mechanism of action. However, questions remain regarding Piezo's role in muscle function due to the non-selective nature of GsMTx4 inhibition toward membrane mechanoenzymes and the implication of MCS channel types by genetic knockdown. Evidence supporting Piezo like activity, at least in the developmental stages of muscle, is presented. While the MSC targets of GsMTx4 in muscle pathology are unclear, its muscle protective effects are clearly demonstrated in two recent in situ studies on normal cardiomyocytes and dystrophic skeletal muscle. The muscle protective function may be due to the combined effect of GsMTx4's inhibitory action on cationic MSCs like Piezo and TRP, and its potentiation of repolarizing K + selective MSCs like K2P and SAKCa. Paradoxically, the potent in vitro action of GsMTx4 on many physiological functions seems to conflict with its lack of in situ side-effects on normal animal physiology. Future investigations into cytoskeletal control of sarcolemma mechanics and the suspected inclusion of MSCs in membrane micro/nano sized domains with distinct mechanical properties will aide our understanding of this dichotomy. Published by Elsevier Ltd.

  20. 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.

  1. RELACION DE LA EXPRESION DEL RECEPTOR DE INSULINA CON LA EXPRESION DE LAS ENZIMAS GLICOGENICAS (GS1 Y GS2) Y GLUCONEOGENICAS EN LAS CELULAS DE TUBULO PROXIMAL DE RATAS NORMALES Y DIABETICAS

    OpenAIRE

    GATICA GUTIERREZ, RODRIGO ORLANDO; GATICA GUTIERREZ, RODRIGO ORLANDO

    2012-01-01

    En el presente estudio se determinó los efectos sobre la expresión y localización del receptor de insulina (InsR), de glicógeno sin tasa (GS) y de las enzimas glicolíticas y gluconeogénicas en diabetes de largo plazo. Insulina es esencial para el manejo energético del cuerpo, sin embargo, su rol a nivel renal es poco conocido. Su unión al receptor de insulina provoca una cascada de señalización intracelular, que regula múltiples procesos biológicos, tales corno el metabolismo lipídico y pr...

  2. THE FAST DECLINING TYPE Ia SUPERNOVA 2003gs, AND EVIDENCE FOR A SIGNIFICANT DISPERSION IN NEAR-INFRARED ABSOLUTE MAGNITUDES OF FAST DECLINERS AT MAXIMUM LIGHT

    International Nuclear Information System (INIS)

    Krisciunas, Kevin; Marion, G. H.; Suntzeff, Nicholas B.

    2009-01-01

    We obtained optical photometry of SN 2003gs on 49 nights, from 2 to 494 days after T(B max ). We also obtained near-IR photometry on 21 nights. SN 2003gs was the first fast declining Type Ia SN that has been well observed since SN 1999by. While it was subluminous in optical bands compared to more slowly declining Type Ia SNe, it was not subluminous at maximum light in the near-IR bands. There appears to be a bimodal distribution in the near-IR absolute magnitudes of Type Ia SNe at maximum light. Those that peak in the near-IR after T(B max ) are subluminous in the all bands. Those that peak in the near-IR prior to T(B max ), such as SN 2003gs, have effectively the same near-IR absolute magnitudes at maximum light regardless of the decline rate Δm 15 (B). Near-IR spectral evidence suggests that opacities in the outer layers of SN 2003gs are reduced much earlier than for normal Type Ia SNe. That may allow γ rays that power the luminosity to escape more rapidly and accelerate the decline rate. This conclusion is consistent with the photometric behavior of SN 2003gs in the IR, which indicates a faster than normal decline from approximately normal peak brightness.

  3. Attention bias for sleep-related stimuli in primary insomnia and delayed sleep phase syndrome using the dot-probe task.

    Science.gov (United States)

    MacMahon, Kenneth M A; Broomfield, Niall M; Espie, Colin A

    2006-11-01

    Cognitive models of primary insomnia (PI) suggest attention bias as a maintaining process. This study used a hallmark measure of attention bias, the dot-probe task, to determine whether attention bias to sleep-related stimuli is present in individuals with PI. Control groups of good sleepers (GS) and individuals with delayed sleep phase syndrome (DSPS), a sleep disorder with no presumed cognitive pathway and, hence, no predicted association with attention bias, were included. A between-groups (PI, DSPS, GS) design was employed. Participants completed a dot-probe task with stimuli comprising sleep-related and neutral words, balanced for length and frequency of usage. It was predicted a priori that PI would show greater attention bias to sleep stimuli compared with GS and DSPS groups. No difference between GS and DSPS was predicted. Sixty-three individuals completed the study (PI = 21; DSPS = 22; GS = 20), with those in PI and DSPS classified by International Classification of Sleep Disorders criteria according to self-report sleep diaries and actigraphy. GS scored Sleep Quality Index, reported being good sleepers, and met no criteria for a current or previous sleep disorder. N/A. As predicted, PI showed increased vigilance for sleep-related stimuli relative to GS and DSPS. No differences between GS and those with DSPS were found. The PI group showed shorter response latencies relative to the GS and DSPS groups. Results support an association between attention bias and PI. Further work must determine whether or not attention bias is a causal factor. Speeded responses in the PI group suggest heightened arousal, indicating that physiologic factors may play a related role.

  4. 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.

  5. Marfan Syndrome

    Science.gov (United States)

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

  6. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  7. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  8. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  9. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  10. 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.

  11. The SERTS-97 Rocket Experiment on Study Activity on the Sun: Flight 36.167-GS on 1997 November 18

    Science.gov (United States)

    Swartz, Marvin; Condor, Charles E.; Davila, Joseph M.; Haas, J. Patrick; Jordan, Stuart D.; Linard, David L.; Miko, Joseph J.; Nash, I. Carol; Novello, Joseph; Payne, Leslie J.; hide

    1999-01-01

    This paper describes mainly the 1997 version of the Solar EUV Rocket Telescope and Spectrograph (SERTS-97), a scientific experiment that operated on NASA's suborbital rocket flight 36.167-GS. Its function was to study activity on the Sun and to provide a cross calibration for the CDS instrument on the SOHO satellite. The experiment was designed, built, and tested by the Solar Physics Branch of the Laboratory for Astronomy and Solar Physics at the Goddard Space Flight Center (GSFC). Other essential sections of the rocket were built under the management of the Sounding Rockets Program Office. These sections include the electronics, timers, IGN despin, the SPARCS pointing controls, the S-19 flight course correction section, the rocket motors, the telemetry, ORSA, and OGIVE.

  12. Carbon steel protection in G.S. (Girlder sulfide) plants. Pressure influence on iron sulfide scales formation. Pt. 5

    International Nuclear Information System (INIS)

    Delfino, C.A.; Lires, O.A.; Rojo, E.A.

    1987-01-01

    In order to protect carbon steel towers and piping of Girlder sulfide (G.S.) experimental heavy water plants against corrosion produced by the action of aqueous solutions of hydrogen sulfide, a method, previously published, was developed. Carbon steel, exposed to saturated aqueous solutions of hydrogen sulfide, forms iron sulfide scales. In oxygen free solutions evolution of corrosion follows the sequence: mackinawite → cubic ferrous sulfide → troilite → pyrrotite → pyrite. Scales formed by pyrrotite-pyrite or pyrite are the most protective layers (these are obtained at 130 deg C, 2MPa, for periods of 14 days). Experiments, at 125 deg C and periods of 10-25 days, were performed in two different ways: 1- constant pressure operations at 0.5 and 1.1 MPa. 2- variable pressure operation between 0.3-1 MPa. In all cases pyrrotite-pyrite scales were obtained. (Author) [es

  13. 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....

  14. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

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

    International Nuclear Information System (INIS)

    Graham, J.M. Jr.; Krakow, D.; Smith, A.K.; Lachman, R.S.

    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.)

  16. 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. © 2016 Wiley Periodicals, Inc.

  17. 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.

  18. 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

    Cyclic adenosine 3',5'-monophosphate (cAMP) is an important second messenger, and quantification of intracellular cAMP levels is essential in studies of G protein-coupled receptors (GPCRs). The intracellular cAMP levels are regulated by the adenylate cyclase (AC) upon activation of either Gs- or ...... also observed for the other representative Gs-coupled GPCRs tested, GLP-1R and GlucagonR. The FRET-based cAMP biosensor assay is robust, reproducible, and inexpensive with good Z factors and is highly applicable for HTS....

  19. 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.

  20. Lysine conjugation properties in human IgGs studied by integrating high-resolution native mass spectrometry and bottom-up proteomics

    NARCIS (Netherlands)

    Gautier, Violette|info:eu-repo/dai/nl/372660851; Boumeester, Anja J.; Lössl, Philip|info:eu-repo/dai/nl/371559693; Heck, Albert J R|info:eu-repo/dai/nl/105189332

    2015-01-01

    Antibody-drug conjugates (ADCs) are a novel class of biopharmaceuticals several of which are now being investigated in clinical studies. In ADCs, potent cytotoxic drugs are coupled via a linker to reactive residues in IgG monoclonal antibodies. Linkage to lysine residues in the IgGs, using

  1. NON DESTRUCTIVE APPLICATION OF RADIOACTIVE TRACER TECHNIQUE FOR CHARACTERIZATION OF INDUSTRIAL GRADE ANION EXCHANGE RESINS INDION GS-300 AND INDION-860

    Directory of Open Access Journals (Sweden)

    P.U. SINGARE

    2014-02-01

    Full Text Available 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, 131I and 82Br 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−1, amount of iodide ion exchanged (mmol, initial rate of iodide ion exchange (mmol/min and log Kd 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 °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.

  2. A method for determining the branching ratio for the superallowed decay: 10C(0+, gs)→10B(0+, 1.74 MeV)+e++ν

    International Nuclear Information System (INIS)

    Kroupa, M.A.; Freedman, S.J.; Barker, P.H.; Ferguson, S.M.

    1991-01-01

    We describe a new way of determining the strength of the superallowed branch of the β-decay of 10 C, 10 C(0 + , gs) → 10 B(0 + , 1.74 MeV) + e + + ν. Precise knowledge of the branching ratio is needed to compute the experimental ft-value and the weak vector coupling constant. (orig.)

  3. Improved stress tolerance and productivity in transgenic rice plants constitutively expressing the Oryza sativa glutathione synthetase OsGS under paddy field conditions.

    Science.gov (United States)

    Park, Seong-Im; Kim, Young-Saeng; Kim, Jin-Ju; Mok, Ji-Eun; Kim, Yul-Ho; Park, Hyang-Mi; Kim, Il-Sup; Yoon, Ho-Sung

    2017-08-01

    Reactive oxygen species, which increase under various environmental stresses, have deleterious effects on plants. An important antioxidant, glutathione, is used to detoxify reactive oxygen species in plant cells and is mainly produced by two enzymes: gamma-glutamylcysteine synthetase (γ-ECS) and glutathione synthetase (GS). To evaluate the functional roles of the glutathione synthetase gene (OsGS) in rice, we generated four independent transgenic rice plants (TG1-TG4) that overexpressed OsGS under the control of the constitutively expressed OsCc1 promoter. When grown under natural paddy field conditions, the TG rice plants exhibited greater growth development, higher chlorophyll content, and higher GSH/GSSH ratios than control wild-type (WT) rice plants. Subsequently, the TG rice plants enhanced redox homeostasis by preventing hydroperoxide-mediated membrane damage, which improved their adaptation to environmental stresses. As a result, TG rice plants improved rice grain yield and total biomass following increases in panicle number and number of spikelets per panicle, despite differences in climate during the cultivation periods of 2014 and 2015. Overall, our results indicate that OsGS overexpression improved redox homeostasis by enhancing the glutathione pool, which resulted in greater tolerance to environmental stresses in the paddy fields. Copyright © 2017. Published by Elsevier GmbH.

  4. Genetic divergence for high-molecular weight glutenin subunits (HMW-GS) in indigenous landraces and commercial cultivars of bread wheat of Pakistan.

    Science.gov (United States)

    Yasmeen, F; Khurshid, H; Ghafoor, A

    2015-05-11

    Wheat flour quality is an important consideration in the breeding and development of new cultivars. A strong association between high-molecular weight glutenin subunits (HMW-GS) and bread making quality has resulted in the widespread utilization of HMW-GS in wheat breeding. In this study, we analyzed 242 lines of wheat, including landraces from the provinces of Punjab and Baluchistan, as well as the commercial varieties of Pakistan, to determine allelic variation in the Glu-A1, Glu-B1, and Glu-D1 loci encoding HMW-GS. Higher genetic diversity was observed for HMW-GS in landraces from Baluchistan, followed by landraces collected from Punjab and then commercial varieties. Rare and uncommon subunits were observed in Glu-B1, whereas Glu-A1 was less polymorphic. However, Glu-B1 was the highest contributor to overall diversity (78%), with a total of 31 rare alleles, followed by Glu-D1 (20%) with the high quality 5+10 allele and other variants. Commercial cultivars possessed favorable alleles, potentially from indirect selection for wheat flour quality by the breeders; however, this indirect selection has decreased the pedigree base of commercial cultivars. The allelic combinations, including 2*, 5+10, and 17+18, showing high quality scores were frequent among landraces, indicating their usefulness in future crop improvement and breeding programs.

  5. The positive impact of simultaneous implementation of the BD FocalPoint GS Imaging System and lean principles on the operation of gynecologic cytology.

    Science.gov (United States)

    Wong, Rebecca; Levi, Angelique W; Harigopal, Malini; Schofield, Kevin; Chhieng, David C

    2012-02-01

    Our cytology laboratory, like many others, is under pressure to improve quality and provide test results faster while decreasing costs. We sought to address these issues by introducing new technology and lean principles. To determine the combined impact of the FocalPoint Guided Screener (GS) Imaging System (BD Diagnostics-TriPath, Burlington, North Carolina) and lean manufacturing principles on the turnaround time (TAT) and productivity of the gynecologic cytology operation. We established a baseline measure of the TAT for Papanicolaou tests. We then compared that to the performance after implementing the FocalPoint GS Imaging System and lean principles. The latter included value-stream mapping, workflow modification, and a first in-first out policy. The mean (SD) TAT for Papanicolaou tests before and after the implementation of FocalPoint GS Imaging System and lean principles was 4.38 (1.28) days and 3.20 (1.32) days, respectively. This represented a 27% improvement in the average TAT, which was statistically significant (P implementation of FocalPoint GS Imaging System in conjunction with lean principles resulted in a significant decrease in the average TAT for Papanicolaou tests and a substantial increase in the productivity of cytotechnologists while maintaining the diagnostic quality of gynecologic cytology.

  6. Rhipicephalus microplus dataset of nonredundant raw sequence reads from 454 GS FLX sequencing of Cot-selected (Cot = 660) genomic DNA

    Science.gov (United States)

    A reassociation kinetics-based approach was used to reduce the complexity of genomic DNA from the Deutsch laboratory strain of the cattle tick, Rhipicephalus microplus, to facilitate genome sequencing. Selected genomic DNA (Cot value = 660) was sequenced using 454 GS FLX technology, resulting in 356...

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

    International Nuclear Information System (INIS)

    Singare, P. U.

    2014-01-01

    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, 131 I and 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 -1 ), amount of iodide ion exchanged (mmol), initial rate of iodide ion exchange (mmol/min) and log K 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

  8. The mechano-gated channel inhibitor GsMTx4 reduces the exercise pressor reflex in rats with ligated femoral arteries.

    Science.gov (United States)

    Copp, Steven W; Kim, Joyce S; Ruiz-Velasco, Victor; Kaufman, Marc P

    2016-05-01

    Mechanical and metabolic stimuli arising from contracting muscles evoke the exercise pressor reflex. This reflex is greater in a rat model of simulated peripheral arterial disease in which a femoral artery is chronically ligated than it is in rats with freely perfused femoral arteries. The role played by the mechanically sensitive component of the exaggerated exercise pressor reflex in ligated rats is unknown. We tested the hypothesis that the mechano-gated channel inhibitor GsMTx4, a relatively selective inhibitor of mechano-gated Piezo channels, reduces the exercise pressor reflex in decerebrate rats with ligated femoral arteries. Injection of 10 μg of GsMTx4 into the arterial supply of the hindlimb reduced the pressor response to Achilles tendon stretch (a purely mechanical stimulus) but had no effect on the pressor responses to intra-arterial injection of α,β-methylene ATP or lactic acid (purely metabolic stimuli). Moreover, injection of 10 μg of GsMTx4 into the arterial supply of the hindlimb reduced both the integrated pressor area (control 535 ± 21, GsMTx4 218 ± 24 mmHg·s; P reflex contributes to the exaggerated exercise pressor reflex during intermittent hindlimb muscle contractions in rats with ligated femoral arteries. Copyright © 2016 the American Physiological Society.

  9. Intraesophageal administratio (JP4-039) and p53/MDM2/MDM4 Inhibitor (BEB55) ameliorates radiation esophagitisn of GS-Nitroxide

    NARCIS (Netherlands)

    Kim, H.; Bernard, M.; Epperly, M.W.; Shen, H.; Dixon, T.M.; Amoscato, A.A.; Doemling, A.S.; Li, S.; Gao, X.; Wipf, P.

    2011-01-01

    Purpose/Objective(s): To evaluate the esophageal radiation dose modification properties of the GS-nitroxide (JP4-039) and the p53/MDM2/MDM4 inhibitor (BEB55). Materials/Methods: Esophagitis is a significant toxicity of radiation therapy of thoracic cancers. We evaluated radiation dose modification

  10. 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.; Christensen, F. E.; Craig, W. W.; Fuerst, F.; Hailey, C. J.; Harrison, F. A.; Stern, D. K.; hide

    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(sup 2) > or = 0.98 (1(sigma) statistical limits only). The fits also require a high inclination: theta approx. = 75(2)deg. 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.

  11. Supplementation of Nucleosides During Selection can Reduce Sequence Variant Levels in CHO Cells Using GS/MSX Selection System.

    Science.gov (United States)

    Tang, Danming; Lam, Cynthia; Louie, Salina; Hoi, Kam Hon; Shaw, David; Yim, Mandy; Snedecor, Brad; Misaghi, Shahram

    2018-01-01

    In the process of generating stable monoclonal antibody (mAb) producing cell lines, reagents such as methotrexate (MTX) or methionine sulfoximine (MSX) are often used. However, using such selection reagent(s) increases the possibility of having higher occurrence of sequence variants in the expressed antibody molecules due to the effects of MTX or MSX on de novo nucleotide synthesis. Since MSX inhibits glutamine synthase (GS) and results in both amino acid and nucleoside starvation, it is questioned whether supplementing nucleosides into the media could lower sequence variant levels without affecting titer. The results show that the supplementation of nucleosides to the media during MSX selection decreased genomic DNA mutagenesis rates in the selected cells, probably by reducing nucleotide mis-incorporation into the DNA. Furthermore, addition of nucleosides enhance clone recovery post selection and does not affect antibody expression. It is further observed that nucleoside supplements lowered DNA mutagenesis rates only at the initial stage of the clone selection and do not have any effect on DNA mutagenesis rates after stable cell lines are established. Therefore, the data suggests that addition of nucleosides during early stages of MSX selection can lower sequence variant levels without affecting titer or clone stability in antibody expression. © 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  12. NuSTAR DETECTION OF HARD X-RAY PHASE LAGS FROM THE ACCRETING PULSAR GS 0834–430

    Energy Technology Data Exchange (ETDEWEB)

    Miyasaka, Hiromasa; Harrison, Fiona A.; Fürst, Felix; Bellm, Eric C.; Grefenstette, Brian W.; Madsen, Kristin K.; Walton, Dominic J. [Cahill Center for Astronomy and Astrophysics, California Institute of Technology, Pasadena, CA 91125 (United States); Bachetti, Matteo; Barret, Didier [Université de Toulouse, UPS-OMP, IRAP, F-31400 Toulouse (France); Boggs, Steven E.; Craig, William W.; Tomsick, John A. [Space Sciences Laboratory, University of California, Berkeley, CA 94720 (United States); Chakrabarty, Deepto [Kavli Institute for Astrophysics and Space Research, Massachusetts Institute of Technology, Cambridge, MA 02139 (United States); Chenevez, Jerome; Christensen, Finn E. [DTU Space, National Space Institute, Technical University of Denmark, Elektrovej 327, DK-2800 Lyngby (Denmark); Hailey, Charles J. [Columbia Astrophysics Laboratory, Columbia University, New York, NY 10027 (United States); Natalucci, Lorenzo [Istituto di Astrofisica e Planetologia Spaziali, INAF, Via Fosso del Cavaliere 100, Roma I-00133 (Italy); Pottschmidt, Katja [CRESST, UMBC, and NASA GSFC, Code 661, Greenbelt, MD 20771 (United States); Stern, Daniel [Jet Propulsion Laboratory, California Institute of Technology, Pasadena, CA 91109 (United States); Wilms, Jörn, E-mail: miyasaka@srl.caltech.edu [Dr. Karl-Remeis-Sternwarte and ECAP, Sternwartstr. 7, D-96049 Bamberg (Germany); and others

    2013-09-20

    The Nuclear Spectroscopic Telescope Array hard X-ray telescope observed the transient Be/X-ray binary GS 0834–430 during its 2012 outburst—the first active state of this system observed in the past 19 yr. We performed timing and spectral analysis and measured the X-ray spectrum between 3-79 keV with high statistical significance. We find the phase-averaged spectrum to be consistent with that observed in many other magnetized, accreting pulsars. We fail to detect cyclotron resonance scattering features that would allow us to constrain the pulsar's magnetic field in either phase-averaged or phase-resolved spectra. Timing analysis shows a clearly detected pulse period of ∼12.29 s in all energy bands. The pulse profiles show a strong, energy-dependent hard phase lag of up to 0.3 cycles in phase, or about 4 s. Such dramatic energy-dependent lags in the pulse profile have never before been reported in high-mass X-ray binary 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 this energy-dependent pulse phase shift. We find the most likely explanation for this effect is a complex beam geometry.

  13. 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.

  14. Sociālie mediji kā ilgtspējīgs mārketinga instruments.

    OpenAIRE

    Kudlāne, Maija

    2012-01-01

    Ietekme, kādu sociālie mediji atstāj uz patērētāja ikdienas dzīvi ir neiedomājami liela. Tāpēc sociālo mediju mārketings ir attīstījies kā atsevišķa nozare. Pastāv dažādi viedokļi par to vai sociālo mediju mārketings ir ilgtspējīgs vai tā ir tikai mirkļa tendence. Darba mērķis ir izpētīt sociālo mediju mārketinga īpatnības un pielietojumu atkarībā no mārketinga mērķa, mērķa auditorijas iezīmēm, ekonomiskiem un kultūras faktoriem, kā arī izprast tā nākotnes potenciālu. Darba izpētes pro...

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

    International Nuclear Information System (INIS)

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

    2002-01-01

    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

  16. Transient Gerstmann syndrome as manifestation of stroke: Case report and brief literature review

    Directory of Open Access Journals (Sweden)

    Rafael Batista João

    Full Text Available ABSTRACT Gerstmann Syndrome (GS is a rare neurological condition described as a group of cognitive changes corresponding to a tetrad of symptoms comprising agraphia, acalculia, right-left disorientation and finger agnosia. It is known that some specific brain lesions may lead to such findings, particularly when there is impairment of the angular gyrus and adjacent structures. In addition, the possibility of disconnection syndrome should be considered in some cases. The purpose of this article is to report a case of a young, cardiac patient, non-adherent to treatment, who presented with a stroke in which transient clinical symptoms were compatible with the tetrad of GS. The case report is followed by a discussion and brief review of the relevant literature.

  17. 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 that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  18. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  19. Metabolic Syndrome

    Science.gov (United States)

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

  20. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  1. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  2. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  3. 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 ...

  4. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  5. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  6. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  7. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  8. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  9. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  10. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  11. 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.

  12. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  13. 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

  14. Transcriptional regulation of host NH₄⁺ transporters and GS/GOGAT pathway in arbuscular mycorrhizal rice roots.

    Science.gov (United States)

    Pérez-Tienda, Jacob; Corrêa, Ana; Azcón-Aguilar, Concepción; Ferrol, Nuria

    2014-02-01

    Arbuscular mycorrhizal (AM) fungi play a key role in the nutrition of many land plants. AM roots have two pathways for nutrient uptake, directly through the root epidermis and root hairs and via AM fungal hyphae into root cortical cells, where arbuscules or hyphal coils provide symbiotic interfaces. Recent studies demonstrated that the AM symbiosis modifies the expression of plant transporter genes and that NH₄⁺ is the main form of N transported in the symbiosis. The aim of the present work was to get insights into the mycorrhizal N uptake pathway in Oryza sativa by analysing the expression of genes encoding ammonium transporters (AMTs), glutamine synthase (GS) and glutamate synthase (GOGAT) in roots colonized by the AM fungus Rhizophagus irregularis and grown under two N regimes. We found that the AM symbiosis down-regulated OsAMT1;1 and OsAMT1;3 expression at low-N, but not at high-N conditions, and induced, independently of the N status of the plant, a strong up-regulation of OsAMT3;1 expression. The AM-inducible NH₄⁺ transporter OsAMT3;1 belongs to the family 2 of plant AMTs and is phylogenetically related to the AM-inducible AMTs of other plant species. Moreover, for the first time we provide evidence of the specific induction of a GOGAT gene upon colonization with an AM fungus. These data suggest that OsAMT3;1 is likely involved in the mycorrhizal N uptake pathway in rice roots and that OsGOGAT2 plays a role in the assimilation of the NH₄⁺ supplied via the OsAMT3;1 AM-inducible transporter. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  15. 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

    2018-05-01

    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.

  16. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  17. B(IS4;0GS+→4γ+) systematics in rare-earth nuclei: SU sdg (3) description

    International Nuclear Information System (INIS)

    Devi, Y.D.; Kota, V.K.B.

    1993-01-01

    The observed variation of B(IS4; 0 GS + →4 γ + ) with mass number A, that gives information about hexadecupole component in γ-vibration, in rare-earth nuclei is studied in the SU sdg (3) limit of sdg interacting boson model empoloying IBM-2 to IBM-1 projected hexadecupole transition operator with effective charges determined using a multi-j shell mapping procedure. The SU sdg (3) limit provides a reasonably good description of the data. (orig.)

  18. GsCa2+-ATPase基因大豆主要农艺性状调查与分析%Investigation and Analysis of Main Agronomic Traits of Transgenic Soybean with GsCa2+-ATPase Gene

    Institute of Scientific and Technical Information of China (English)

    赵超越; 柏锡; 樊超; 林凡敏; 才华; 纪巍; 朱延明

    2012-01-01

    In order to evaluate the variation of the main agronomic traits between transgenic soybean and the control, the seed germination, seed shattering, yield traits, morphological and quality traits of three T3 transgenic soybean lines HF50-CA-1, HF55-CA-1 and HF55-CA-2 were investigated and analyzed. No obvious differences in seed germination,seed shattering,yield traits,morphological traits and protein content were found for transgenic soybeans. The oil content of HF50-CA-1 ,HF55-CA-1 were decreased by 1.01% and 0.56% compared with the control, while HF55-CA-2 had no obvious differences. This study provides an important genetic resource for the industrialization of alkali tolerant transgenic soybeans.%为对转基因大豆新株系的主要农艺性状进行科学评价,对已获得耐盐碱性状显著的转GsCa2 +-A TPase基因大豆的3个株系HF50-CA-1、HF55-CA-1、HF55-CA-2的T3植株进行种子萌发率、种子落粒性、产量性状、品质性状和形态性状的调查与分析.结果表明:在种子萌发率、种子落粒性、形态性状和产量性状上,3个转基因大豆株系与对照相比无显著差异.在品质性状上,3个转基因株系的蛋白含量与对照差异不显著.表明没有因导入耐盐碱基因而导致上述性状产生不良变化.油分含量与对照相比,株系HF50-CA-1和HF55-CA-1分别显著下降1.01%和0.56%,而HF55-CA-2株系则差异不显著.

  19. 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.

  20. Development of feed supplement Urea Molasses Multi nutrient Block (UMMB) using protein source from soy bean flour and gliricidia sepium (Gs) for ruminant animal

    International Nuclear Information System (INIS)

    Suharyono

    2014-01-01

    The aim of this activities is to develop formula of feed supplement UMMB-Gs for ruminant animal. The development of feed supplement was carried out on a laboratory and field scale. The activities on laboratory scale include biological evaluation of feed supplement used isotope technique P-32 in order to measure ratio bacteria and protozoa and growth rate of microbial cell in rumen liquid by in vitro studies. Two feed supplement were developed, these were UMMB-TK and UMMB-Gs. Two UMMB-TK were produced at pesantren Al Hikmah and Famor Satwa. Gliricidia sepium meal combined with UMMB-BK were tested on Goat of PE, buffaloes and beef cattle by in vitro studies in order to measure growth rate of microbial cell in rumen liquid using P-32. On the next activity the effect of UMMB-Gs on production and fat concentration of milk from dairy cattle was done. Statistical analysis used were test, 3x3 latin square design and randomize block design respectively. Quality control of UMMB indicated that ratio of bacteria and protozoa was 14 : 1 on UMMB-BK formulas, whereas on UMMB-TK1 it was found 19 : 1 and UMMB-TK2 was 17 : 1 respectively. These results were better then control (grass only). The value of feed control was 1 : 4. The result of UMMB-BK combinated with Gs on laboratory scale was capable of increasing growth rate of microbial cell on rumen liquid of Goat PE, buffaloes and beef cattle. The values were 102.01%; 205.7% and 73.7% respectively compared to control. Field trial of UMMB-Gs increased milk production and fat concentration on dairy cattle. It mean that nuclear technique has a potential role on the finding of a new feed supplement formulas and capable of giving positive impact, when UMMB feed supplement was able to create job field for small business of UMMB product based on local feed resources. (author)

  1. 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.

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

    Science.gov (United States)

    Canal, N.; Calvet, J.-C.; Decharme, B.; Carrer, D.; Lafont, S.; Pigeon, G.

    2014-12-01

    The simulation of root water uptake in land surface models is affected by large uncertainties. The difficulty in mapping soil depth and in describing the capacity of plants to develop a rooting system is a major obstacle to the simulation of the terrestrial water cycle and to the representation of the impacts of drought. In this study, long time series of agricultural statistics are used to evaluate and constrain root water uptake models. The inter-annual variability of cereal grain yield and permanent grassland dry matter yield is simulated over France 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 two-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 départements, for a range of rooting depths. The number of départements 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 neutral impact of the most refined versions of the model is found with respect to the simplified soil hydrology scheme. This shows that efforts should be made in future studies to reduce other sources of uncertainty, e.g. by using a more detailed soil and root density profile description together with satellite vegetation products. It is found that modelling additional subroot-zone base flow soil layers does not improve (and may even degrade) the representation of the inter-annual variability of the vegetation above-ground biomass. These results are

  3. 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.

  4. Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.

    Science.gov (United States)

    Corbetta, Samuele; Raimondo, Francesca; Tedeschi, Silvana; Syrèn, Marie-Louise; Rebora, Paola; Savoia, Andrea; Baldi, Lorenza; Bettinelli, Alberto; Pitto, Marina

    2015-04-01

    Gitelman syndrome (GS) and Bartter syndrome (BS) are hereditary salt-losing tubulopathies (SLTs) resulting from defects of renal proteins involved in electrolyte reabsorption, as for sodium-chloride cotransporter (NCC) and furosemide-sensitive sodium-potassium-chloride cotransporter (NKCC2) cotransporters, affected in GS and BS Type 1 patients, respectively. Currently, definitive diagnosis is obtained through expensive and time-consuming genetic testing. Urinary exosomes (UE), nanovesicles released by every epithelial cell facing the urinary space, represent an ideal source of markers for renal dysfunction and injury, because UE molecular composition stands for the cell of origin. On these assumptions, the aim of this work is to evaluate the relevance of UE for the diagnosis of SLTs. UE were purified from second morning urines collected from 32 patients with genetically proven SLTs (GS, BS1, BS2 and BS3 patients), 4 with unclassified SLTs and 22 control subjects (age and sex matched). The levels of NCC and NKCC2 were evaluated in UE by SDS-PAGE/western blotting with specific antibodies. Due to their location on the luminal side of tubular cells, NCC and NKCC2 are well represented in UE proteome. The NCC signal is significantly decreased/absent in UE of Gitelman patients compared with control subjects (Mann-Whitney t-test, P Bartter type 1 (P Bartter type 1 patients from controls and, combined with clinical data, from other Bartter patients. Moreover, the receiver operating characteristic curve analysis using UE NCC densitometric values showed a good discriminating power of the test comparing GS patients versus controls and BS patients (area under the curve value = 0.92; sensitivity 84.2% and specificity 88.6%). UE phenotyping may be useful in the diagnosis of GS and BS, thus providing an alternative/complementary, urine-based diagnostic tool for SLT patient recognition and a diagnostic guidance in complex cases. © The Author 2014. Published by Oxford University

  5. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    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.

  6. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  7. 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.

  8. Reye's Syndrome

    Science.gov (United States)

    ... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...

  9. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  10. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  11. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  12. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  13. Confluent holding leads to a transient enhancement in mutagenesis in UV-light-irradiated xeroderma pigmentosum, Gardner's syndrome and normal human diploid fibroblasts

    International Nuclear Information System (INIS)

    Grosovsky, A.J.; Little, J.B.

    1985-01-01

    The influence of confluent holding periods of 0-24 h of UV-light-induced mutagenesis has been investigated in several human cell strains including xeroderma pigmentosum complementation group A (XPA), Gardner's syndrome (GS) and normal human diploid fibroblasts (NHDF). Confluent cultures of NHDF exposed to UV light exhibited a time-dependent increase in survival when subculture was delayed up to 24 h after irradiation. GS and XPA fibroblasts showed no such increase. When allowed confluent holding periods of 1.5-24 h, GS, XPA and NHDF all exhibited a transient enhancement of mutagenesis such that a 5-10-fold increase in mutation frequency was observed in cells subcultured at 6-9 h after irradiation as compared to cells subcultured at 3-6 h. A decline in mutation frequency prior to the mutagenesis peak was observed in GS and normal cells but not in XPA. After 24 h of confluent holding, the mutation frequency in irradiated GS and NHDF had returned to near background levels although XPA mutation frequencies remain similar to those observed in immediately subcultured cells. A model to explain these overall results is discussed. (Auth.)

  14. Assimilation of Leaf Area Index and Soil Wetness Index into the ISBA-A-gs land surface model over France

    Science.gov (United States)

    Barbu, A. L.; Calvet, J.-C.; Lafont, S.

    2012-04-01

    The development of a Land Data Assimilation System (LDAS) dedicated to carbon and water cycles is considered as a key aspect for monitoring activities of terrestrial carbon fluxes. It allows the assimilation of biophysical products in order to reduce the bias between the model simulations and the observations and have a positive impact on carbon and water fluxes. This work shows the benefits of data assimilation of Earth observations for the monitoring of vegetation status and carbon fluxes, in the framework of the GEOLAND2 project, co-funded by the European Commission within the GMES initiative in FP7. In this study, the SURFEX modelling platform developed at Meteo-France is used for describing the continental vegetation state, surface fluxes and soil moisture. It consists of the land surface model ISBA-A-gs that simulates photosynthesis and plant growth. The vegetation biomass and Leaf Area Index (LAI) evolve dynamically in response to weather and climate conditions. The ECOCLIMAP database provides detailed information about the land cover at a resolution of 1 km. Over the France domain, the most present ecosystem types are grasslands (32%), C3 crop lands (24%), deciduous forest (20%), bare soil (11%), and C4 crop lands (8%).The model also includes a representation of the soil moisture stress with two different types of drought responses for herbaceous vegetation and forests. A version of the Extended Kalman Filter (EKF) scheme is developed for the joint assimilation of satellite-derived surface soil moisture from ASCAT-25 km product, namely Soil Wetness Index (SWI-01) developed by TU-Wien, and remote sensing LAI product provided by GEOLAND2. The GEOLAND2 LAI product is derived from CYCLOPES V3.1 and MODIS collection 5 data. It is more consistent with an effective LAI for low LAI and close to the actual LAI for high values. The assimilation experiment was conducted across France at a spatial resolution of 8 km. The study period ranges from July 2007 to December

  15. Features of an altered AMPK metabolic pathway in Gilbert’s Syndrome, and its role in metabolic health

    OpenAIRE

    Christine Mölzer; Marlies Wallner; Carina Kern; Anela Tosevska; Ursula Schwarz; Rene Zadnikar; Daniel Doberer; Rodrig Marculescu; Karl-Heinz Wagner

    2016-01-01

    Energy metabolism, involving the ATP-dependent AMPK-PgC-Ppar pathway impacts metabolic health immensely, in that its impairment can lead to obesity, giving rise to disease. Based on observations that individuals with Gilbert?s syndrome (GS; UGT1A1 *28 promoter mutation) are generally lighter, leaner and healthier than controls, specific inter-group differences in the AMPK pathway regulation were explored. Therefore, a case-control study involving 120 fasted, healthy, age- and gender matched s...

  16. Anti-EBOV GP IgGs Lacking α1-3-Galactose and Neu5Gc Prolong Survival and Decrease Blood Viral Load in EBOV-Infected Guinea Pigs.

    Directory of Open Access Journals (Sweden)

    Olivier Reynard

    Full Text Available Polyclonal xenogenic IgGs, although having been used in the prevention and cure of severe infectious diseases, are highly immunogenic, which may restrict their usage in new applications such as Ebola hemorrhagic fever. IgG glycans display powerful xenogeneic antigens in humans, for example α1-3 Galactose and the glycolyl form of neuraminic acid Neu5Gc, and IgGs deprived of these key sugar epitopes may represent an advantage for passive immunotherapy. In this paper, we explored whether low immunogenicity IgGs had a protective effect on a guinea pig model of Ebola virus (EBOV infection. For this purpose, a double knock-out pig lacking α1-3 Galactose and Neu5Gc was immunized against virus-like particles displaying surface EBOV glycoprotein GP. Following purification from serum, hyper-immune polyclonal IgGs were obtained, exhibiting an anti-EBOV GP titer of 1:100,000 and a virus neutralizing titer of 1:100. Guinea pigs were injected intramuscularly with purified IgGs on day 0 and day 3 post-EBOV infection. Compared to control animals treated with IgGs from non-immunized double KO pigs, the anti-EBOV IgGs-treated animals exhibited a significantly prolonged survival and a decreased virus load in blood on day 3. The data obtained indicated that IgGs lacking α1-3 Galactose and Neu5Gc, two highly immunogenic epitopes in humans, have a protective effect upon EBOV infection.

  17. Anti-EBOV GP IgGs Lacking α1-3-Galactose and Neu5Gc Prolong Survival and Decrease Blood Viral Load in EBOV-Infected Guinea Pigs

    Science.gov (United States)

    Reynard, Olivier; Jacquot, Frédéric; Evanno, Gwénaëlle; Mai, Hoa Le; Martinet, Bernard; Duvaux, Odile; Bach, Jean-Marie; Conchon, Sophie; Judor, Jean-Paul; Perota, Andrea; Lagutina, Irina; Duchi, Roberto; Lazzari, Giovanna; Le Berre, Ludmilla; Perreault, Hélène; Lheriteau, Elsa; Raoul, Hervé; Volchkov, Viktor; Galli, Cesare; Soulillou, Jean-Paul

    2016-01-01

    Polyclonal xenogenic IgGs, although having been used in the prevention and cure of severe infectious diseases, are highly immunogenic, which may restrict their usage in new applications such as Ebola hemorrhagic fever. IgG glycans display powerful xenogeneic antigens in humans, for example α1–3 Galactose and the glycolyl form of neuraminic acid Neu5Gc, and IgGs deprived of these key sugar epitopes may represent an advantage for passive immunotherapy. In this paper, we explored whether low immunogenicity IgGs had a protective effect on a guinea pig model of Ebola virus (EBOV) infection. For this purpose, a double knock-out pig lacking α1–3 Galactose and Neu5Gc was immunized against virus-like particles displaying surface EBOV glycoprotein GP. Following purification from serum, hyper-immune polyclonal IgGs were obtained, exhibiting an anti-EBOV GP titer of 1:100,000 and a virus neutralizing titer of 1:100. Guinea pigs were injected intramuscularly with purified IgGs on day 0 and day 3 post-EBOV infection. Compared to control animals treated with IgGs from non-immunized double KO pigs, the anti-EBOV IgGs-treated animals exhibited a significantly prolonged survival and a decreased virus load in blood on day 3. The data obtained indicated that IgGs lacking α1–3 Galactose and Neu5Gc, two highly immunogenic epitopes in humans, have a protective effect upon EBOV infection. PMID:27280712

  18. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  19. Glutamine synthetase and alanine transaminase expression are decreased in livers of aged vs. young beef cows and GS can be upregulated by 17β-estradiol implants.

    Science.gov (United States)

    Miles, E D; McBride, B W; Jia, Y; Liao, S F; Boling, J A; Bridges, P J; Matthews, J C

    2015-09-01

    Aged beef cows (≥ 8 yr of age) produce calves with lower birth and weaning weights. In mammals, aging is associated with reduced hepatic expression of glutamine synthetase (GS) and alanine transaminase (ALT), thus impaired hepatic Gln-Glu cycle function. To determine if the relative protein content of GS, ALT, aspartate transaminase (AST), glutamate transporters (EAAC1, GLT-1), and their regulating protein (GTRAP3-18) differed in biopsied liver tissue of (a) aged vs. young (3 to 4 yr old) nonlactating, nongestating Angus cows (Exp. 1 and 2) and (b) aged mixed-breed cows with and without COMPUDOSE (17β-estradiol) ear implants (Exp. 3), Western blot analyses were performed. In Exp. 1, 12 young (3.62 ± 0.01 yr) and 13 aged (10.08 ± 0.42 yr) cows grazed the same mixed forage for 42 d (August-October). In Exp. 2, 12 young (3.36 ± 0.01 yr) and 12 aged (10.38 ± 0.47 yr) cows were individually fed (1.03% of BW) a corn-silage-based diet to maintain BW for 20 d. For both Exp. 1 and 2, the effect of cow age was assessed by ANOVA using the MIXED procedure of SAS. Cow BW did not change ( ≥ 0.17). Hepatic ALT (78% and 61%) and GS (52% and 71%) protein content (Exp. 1 and 2, respectively) was decreased ( ≤ 0.01), whereas GTRAP3-18 (an inhibitor of EAAC1 activity) increased ( ≤ 0.01; 170% and 136%) and AST, GLT-1, and EAAC1 contents did not differ ( ≥ 0.17) in aged vs. young cows. In Exp. 2, free concentrations (nmol/g) of Glu, Ala, Gln, Arg, and Orn in liver homogenates were determined. Aged cows tended to have less ( = 0.10) free Gln (15.0%) than young cows, whereas other AA concentrations did not differ ( 0.26). In Exp. 3, 14 aged (> 10 yr) cows were randomly allotted ( = 7) to sham or COMPUDOSE (25.7 mg of 17β-estradiol) implant treatment (TRT), and had ad libitum access to alfalfa hay for 28 d. Blood and liver biopsies were collected 14 and 28 d after implant treatment. Treatment, time after implant (DAY), and TRT × DAY effects were assessed by ANOVA using

  20. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  1. Tourette Syndrome

    Science.gov (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  2. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  3. 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, causing...

  4. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  5. 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....

  6. Noonan syndrome

    OpenAIRE

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  7. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Follicular variant of papillary thyroid carcinoma presenting as toxic nodule in an adolescent: coexistent polymorphism of the TSHR and Gsα genes.

    Science.gov (United States)

    Ruggeri, Rosaria Maddalena; Campennì, Alfredo; Giovinazzo, Salvatore; Saraceno, Giovanna; Vicchio, Teresa Manuela; Carlotta, Dario; Cucinotta, Maria Paola; Micali, Carmelo; Trimarchi, Francesco; Tuccari, Giovanni; Baldari, Sergio; Benvenga, Salvatore

    2013-02-01

    Autonomously functioning, "hot", thyroid nodules are not common in children and adolescents. Such nodules are not considered alarming because they are assumed to be benign adenomas. Herein, we present a 15-year-old girl with a papillary thyroid carcinoma of 3.5 cm in diameter, which was functionally autonomous and scintigraphically hot. The patient, initially referred to our Endocrine Unit because of a thyroid nodule, returned 6 months later for symptoms of hyperthyroidism. Hyperthyroidism was confirmed biochemically. Radioactive iodine ((131)I) thyroid scintigraphy was consistent with an autonomous thyroid nodule. As per guidelines, the patient underwent surgery and a pathological examination revealed papillary carcinoma, follicular variant. The excised nodule was examined for activating mutations of the thyrotropin receptor (TSHR), Gsα (GNAS1), H-RAS, N-RAS, K-RAS, and BRAF genes by direct sequencing. No mutations were found. Nevertheless, two combined nonfunctioning mutations were detected: a single-nucleotide polymorphism (SNP) of the TSHR gene, in exon 7, at codon 187 (AAT→AAC, both encoding asparagine), and a SNP within exon 8 of the Gsα gene at codon 185 (ATC→ATT, both encoding isoleucine). Both SNPs were also identified in the germline DNA of the patient. The same SNPs were sought in the parents and brother of our patient. Her father was heterozygous for the TSHR SNP, her mother heterozygous for the Gsα SNP, and her brother was wild type. This case demonstrates that the presence of hyperfunctioning thyroid nodule(s) does not rule out cancer and warrants careful evaluation, especially in childhood and adolescence to overlook malignancy.

  9. Effects of photodynamic therapy on dermal fibroblasts from xeroderma pigmentosum and Gorlin-Goltz syndrome patients.

    Science.gov (United States)

    Zamarrón, Alicia; García, Marta; Río, Marcela Del; Larcher, Fernando; Juarranz, Ángeles

    2017-09-29

    PDT is widely applied for the treatment of non-melanoma skin cancer pre-malignant and malignant lesions (actinic keratosis, basal cell carcinoma and in situ squamous cell carcinoma). In photodynamic therapy (PDT) the interaction of a photosensitizer (PS), light and oxygen leads to the formation of reactive oxygen species (ROS) and thus the selective tumor cells eradication. Xeroderma pigmentosum (XP) and Gorlin-Goltz Syndrome (GS) patients are at high risk of developing skin cancer in sun-exposed areas. Therefore, the use of PDT as a preventive treatment may constitute a very promising therapeutic modality for these syndromes. Given the demonstrated role of cancer associated fibroblasts (CAFs) in tumor progression and the putative CAFs features of some cancer-prone genodermatoses fibroblasts, in this study, we have further characterized the phenotype of XP and GS dermal fibroblasts and evaluated their response to methyl-δ-aminolevulinic acid (MAL)-PDT compared to that of dermal fibroblasts obtained from healthy donors. We show here that XP/GS fibroblasts display clear features of CAFs and present a significantly higher response to PDT, even after being stimulated with UV light, underscoring the value of this therapeutic approach for these rare skin conditions and likely to other forms of skin cancer were CAFs play a major role.

  10. “Inclonals”: IgGs and IgG-enzyme fusion proteins produced in an E. coli expression-refolding system

    OpenAIRE

    Hakim, Rahely; Benhar, Itai

    2009-01-01

    Full-length antibodies and antibodies that ferry a cargo to target cells are desired biopharmaceuticals. We describe the production of full-length IgGs and IgG-toxin fusion proteins in E. coli. In the presented examples of anti CD30 and anti EGF-receptor antibodies, the antibody heavy and light chains or toxin fusions thereof were expressed in separate bacterial cultures, where they accumulated as insoluble inclusion bodies. Following refolding and purification, high yields (up to 50 mg/L of ...

  11. Study on characteristic differences of wheat 1Ax1 and 1Ax2* NILS obtained by transgenic HMW-GS 1Dx5 + 1Dy10 gene

    International Nuclear Information System (INIS)

    Sun Yan; Zhang Hongji; Liu Dongjun; Qi Qianqian; Yang Shuping; Guo Yipan; Ma Shumei; Liu Wenlin; Wang Guangjin; Zhao Wei

    2012-01-01

    Use wheat 1Ax1 and 1Ax2* NILS obtained by transgenic HMW-GS 1Dx5 + 1Dy10 gene, characteristics differences have been studied. The two-year results showed that the statistical differences in seed quality parameters, farinogram parameters, extensigram parameters, botany characters and main agricultural characters between 1Ax1 and 1Ax2* were not significant. We considered that 08K860 and 08K871 are similar in hereditary background, 1Ax1 and 1Ax2* have identical contribute on quality. Breeder should attach to 1Ax1 and 1Ax2* identically on wheat breeding. (authors)

  12. Study on characteristic differences of wheat 1Ax1 and 1Ax2* NILS obtained by transgenic HMW-GS 1Dx5+1Dy10 gene

    International Nuclear Information System (INIS)

    Sun Yan; Zhang Hongji; Liu Dongjun; Qi Qianqian; Yang Shuping; Guo Yifan; Ma Shumei; Liu Wenlin; Wang Guangjin; Zhao Wei

    2011-01-01

    Use wheat 1Ax1 and 1Ax2 * NILS obtained by transgenic HMW-GS 1Dx5+1Dy10 gene, characteristics differences have been studied. The two-year results showed that the statistical differences in seed quality parameters, farinogram parameters, extensigram parameters, botany characters and main agricultural characters between 1Ax1 and 1Ax2 * were not significant. We considered that 08K860 and 08K871 are similar in hereditary background, 1Ax1 and 1Ax2 * have identical contribute on quality. Breeder should atlach to 1Ax1 and 1Ax2 * identically on wheat breeding. (authors)

  13. 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 TA 7/7 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.

  14. 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.

  15. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  16. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  17. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  18. Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus.

    Science.gov (United States)

    Brugnara, Milena; Gaudino, Rossella; Tedeschi, Silvana; Syrèn, Marie-Louise; Perrotta, Silverio; Maines, Evelina; Zaffanello, Marco

    2014-09-01

    We report the case of an infant boy with polyuria and a familial history of central diabetes insipidus. Laboratory blood tests disclosed hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Plasma magnesium concentration was slightly low. Urine analysis showed hypercalciuria, hyposthenuria, and high excretion of potassium. Such findings oriented toward type III Bartter syndrome (BSIII). Direct sequencing of the CLCNKB gene revealed no disease-causing mutations. The water deprivation test was positive. Magnetic resonance imaging showed a lack of posterior pituitary hyperintensity. Finally, direct sequencing of the AVP-NPII gene showed a point mutation (c.1884G>A) in a heterozygous state, confirming an autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI). This condition did not explain the patient's phenotype; thus, we investigated for Gitelman syndrome (GS). A direct sequencing of the SLC12A3 gene showed c.269A>C and c.1205C>A new mutations. In conclusion, the patient had a genetic combination of GS and adFNDI with a BSIII-like phenotype.

  19. Reye Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now What Is Reye’s Syndrome? ...

  20. Alagille Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Alagille Syndrome Back Alagille ...

  1. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

  2. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    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.

  3. 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...

  4. Alagille Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  5. Reye Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  6. Turner Syndrome

    Science.gov (United States)

    ... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

  7. Cushing's Syndrome

    Science.gov (United States)

    ... person cured of Cushing’s syndrome might have some memory loss and slight mental decline. But the change is ... Categories: Family Health, Infants and Toddlers, Kids and Teens, Men, Seniors, WomenTags: acth, adenomas, hormone, sickness September ...

  8. Levator Syndrome

    Science.gov (United States)

    ... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse (See ... out other painful rectal conditions (such as thrombosed hemorrhoids , fissures , or abscesses ). The physical examination is often ...

  9. Alport Syndrome

    Science.gov (United States)

    ... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...

  10. Gilbert's Syndrome

    Science.gov (United States)

    ... not know you have the condition until it's discovered by accident, such as when a blood test ... chemotherapy drug Some protease inhibitors used to treat HIV If you have Gilbert's syndrome, talk to your ...

  11. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  12. Moebius Syndrome

    Science.gov (United States)

    ... delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such ...

  13. 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...

  14. Angelman Syndrome

    Science.gov (United States)

    ... therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential. × Treatment There ...

  15. Joubert Syndrome

    Science.gov (United States)

    ... CEP290 . View Full Definition Treatment Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing ...

  16. Zellweger Syndrome

    Science.gov (United States)

    ... swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. Treatment There is no cure for Zellweger syndrome, nor ...

  17. Nephrotic Syndrome

    Science.gov (United States)

    ... your blood — typically with an artificial kidney machine (dialyzer). Chronic kidney disease. Nephrotic syndrome may cause your ... opportunities Reprint Permissions A single copy of these materials may be reprinted for noncommercial personal use only. " ...

  18. Ohtahara Syndrome

    Science.gov (United States)

    ... are more often affected than girls. View Full Definition Treatment Antiepileptic drugs are used to control seizures, but are unfortunately ... Other therapies are symptomatic and supportive. × ... Definition Ohtahara syndrome is a neurological disorder characterized by ...

  19. Usher Syndrome

    Science.gov (United States)

    ... to abnormal development of the vestibular hair cells, sensory cells that detect gravity and head movement. RP ... 3 Ben-Rebeh, I., et al. (2016). Genetic analysis of Tunisian families with Usher syndrome type 1: ...

  20. 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...

  1. 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......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...

  2. Pendred's syndrome

    International Nuclear Information System (INIS)

    Hashmi, M.I.; Cheema, I.A.; Qasim, G.

    2003-01-01

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  3. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  4. F 18 FDG PET/CT Findings of Spontaneous Mesenteric Fibromatosis in a Patient with Gardner's Syndrome

    International Nuclear Information System (INIS)

    Sohn, Myung Hee; Jeong, Young Jin; Lim, Seok Tae; Kim, Dong Wook; Jeong, Hwan Jeong; Yim, Chang Yeol

    2011-01-01

    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.

  5. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

  6. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  7. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

  8. 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 hormone ...

  9. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  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.

    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

  11. 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).

    Science.gov (United States)

    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

    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, we found

  12. 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.

  13. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

  14. Effects of HMW-GS Ax1 or Dx2 absence on the glutenin polymerization and gluten micro structure of wheat (Triticum aestivum L.).

    Science.gov (United States)

    Gao, Xin; Liu, Tianhong; Ding, Mengyun; Wang, Jun; Li, Chunlian; Wang, Zhonghua; Li, Xuejun

    2018-02-01

    Wheat (Triticum aestivum L.) dough strength and extensibility are mainly determined by the polymerization of glutenin. The number of high-molecular-weight glutenin subunits (HMW-GS) differs in various wheat varieties due to the silencing of some genes. The effects of Ax1 or Dx2 subunit absence on glutenin polymerization, dough mixing properties and gluten micro structure were investigated with two groups of near-isogenic lines. The results showed that Ax1 or Dx2 absence decreased the accumulation rate of glutenin polymers and thus delayed the rapid increase period for glutenin polymerization by at least ten days, which led to lower percentage of polymeric protein in mature grain. Ax1 or Dx2 absence significantly decreased the dough development time and dough stability, but increased the uniformity of micro structure. Lacunarity, derived from quantitative analysis of gluten network, is suggested as a new indicator for wheat quality. Copyright © 2017 Elsevier Ltd. All rights reserved.

  15. Carbon steel protection in G.S. (Girlder sulfide) heavy water fabrication plants. Control of iron content at the final stage of passivation. Pt. 10

    International Nuclear Information System (INIS)

    Rojo, E.A.

    1991-01-01

    This paper is part of a series which corresponds to the carbon steel behaviour as construction material for Girlder sulfide (G.S.) heavy water plants. The present work analyses the iron concentration study during passivation in the passivating fluid. At the beginning, during the formation of the most soluble sulfide -that is the mackinawite-, the iron concentration reaches more than 10 ppm. After some days, this iron concentration begins to decrease up to its stabilization under 0.1 ppm. This process, which occurs in the 9th. and 11th days, indicates that passivation is over, and that a pyrite and pyrrhotite-pyrite layer exists on the iron. Some differences exist between the results obtained and those previsible for the iron sulfides solubilities. In spite of these difficulties, the procedure is perfectly adequate to judge the passivation final stage. (Author) [es

  16. Effects of Lys to Glu mutations in GsMTx4 on membrane binding, peptide orientation, and self-association propensity, as analyzed by molecular dynamics simulations.

    Science.gov (United States)

    Nishizawa, Kazuhisa; Nishizawa, Manami; Gnanasambandam, Radhakrishnan; Sachs, Frederick; Sukharev, Sergei I; Suchyna, Thomas M

    2015-11-01

    GsMTx4, a gating modifier peptide acting on cationic mechanosensitive channels, has a positive charge (+5e) due to six Lys residues. The peptide does not have a stereospecific binding site on the channel but acts from the boundary lipids within a Debye length of the pore probably by changing local stress. To gain insight into how these Lys residues interact with membranes, we performed molecular dynamics simulations of Lys to Glu mutants in parallel with our experimental work. In silico, K15E had higher affinity for 1-palmitoyl-2-oleoyl-glycero-3-phosphocholine bilayers than wild-type (WT) peptide or any other mutant tested, and showed deeper penetration than WT, a finding consistent with the experimental data. Experimentally, the inhibitory activities of K15E and K25E were most compromised, whereas K8E and K28E inhibitory activities remained similar to WT peptide. Binding of WT in an interfacial mode did not influence membrane thickness. With interfacial binding, the direction of the dipole moments of K15E and K25E was predicted to differ from WT, whereas those of K8E and K28E oriented similarly to that of WT. These results support a model in which binding of GsMTx4 to the membrane acts like an immersible wedge that serves as a membrane expansion buffer reducing local stress and thus inhibiting channel activity. In simulations, membrane-bound WT attracted other WT peptides to form aggregates. This may account for the positive cooperativity observed in the ion channel experiments. The Lys residues seem to fine-tune the depth of membrane binding, the tilt angle, and the dipole moments. Copyright © 2015 Elsevier B.V. All rights reserved.

  17. Hypoxia activates a Ca2+-permeable cation conductance sensitive to carbon monoxide and to GsMTx-4 in human and mouse sickle erythrocytes.

    Science.gov (United States)

    Vandorpe, David H; Xu, Chang; Shmukler, Boris E; Otterbein, Leo E; Trudel, Marie; Sachs, Frederick; Gottlieb, Philip A; Brugnara, Carlo; Alper, Seth L

    2010-01-15

    Deoxygenation of sickle erythrocytes activates a cation permeability of unknown molecular identity (Psickle), leading to elevated intracellular [Ca(2+)] ([Ca(2+)](i)) and subsequent activation of K(Ca) 3.1. The resulting erythrocyte volume decrease elevates intracellular hemoglobin S (HbSS) concentration, accelerates deoxygenation-induced HbSS polymerization, and increases the likelihood of cell sickling. Deoxygenation-induced currents sharing some properties of Psickle have been recorded from sickle erythrocytes in whole cell configuration. We now show by cell-attached and nystatin-permeabilized patch clamp recording from sickle erythrocytes of mouse and human that deoxygenation reversibly activates a Ca(2+)- and cation-permeable conductance sensitive to inhibition by Grammastola spatulata mechanotoxin-4 (GsMTx-4; 1 microM), dipyridamole (100 microM), DIDS (100 microM), and carbon monoxide (25 ppm pretreatment). Deoxygenation also elevates sickle erythrocyte [Ca(2+)](i), in a manner similarly inhibited by GsMTx-4 and by carbon monoxide. Normal human and mouse erythrocytes do not exhibit these responses to deoxygenation. Deoxygenation-induced elevation of [Ca(2+)](i) in mouse sickle erythrocytes did not require KCa3.1 activity. The electrophysiological and fluorimetric data provide compelling evidence in sickle erythrocytes of mouse and human for a deoxygenation-induced, reversible, Ca(2+)-permeable cation conductance blocked by inhibition of HbSS polymerization and by an inhibitor of strctch-activated cation channels. This cation permeability pathway is likely an important source of intracellular Ca(2+) for pathologic activation of KCa3.1 in sickle erythrocytes. Blockade of this pathway represents a novel therapeutic approach for treatment of sickle disease.

  18. Hypoxia activates a Ca2+-permeable cation conductance sensitive to carbon monoxide and to GsMTx-4 in human and mouse sickle erythrocytes.

    Directory of Open Access Journals (Sweden)

    David H Vandorpe

    2010-01-01

    Full Text Available Deoxygenation of sickle erythrocytes activates a cation permeability of unknown molecular identity (Psickle, leading to elevated intracellular [Ca(2+] ([Ca(2+](i and subsequent activation of K(Ca 3.1. The resulting erythrocyte volume decrease elevates intracellular hemoglobin S (HbSS concentration, accelerates deoxygenation-induced HbSS polymerization, and increases the likelihood of cell sickling. Deoxygenation-induced currents sharing some properties of Psickle have been recorded from sickle erythrocytes in whole cell configuration.We now show by cell-attached and nystatin-permeabilized patch clamp recording from sickle erythrocytes of mouse and human that deoxygenation reversibly activates a Ca(2+- and cation-permeable conductance sensitive to inhibition by Grammastola spatulata mechanotoxin-4 (GsMTx-4; 1 microM, dipyridamole (100 microM, DIDS (100 microM, and carbon monoxide (25 ppm pretreatment. Deoxygenation also elevates sickle erythrocyte [Ca(2+](i, in a manner similarly inhibited by GsMTx-4 and by carbon monoxide. Normal human and mouse erythrocytes do not exhibit these responses to deoxygenation. Deoxygenation-induced elevation of [Ca(2+](i in mouse sickle erythrocytes did not require KCa3.1 activity.The electrophysiological and fluorimetric data provide compelling evidence in sickle erythrocytes of mouse and human for a deoxygenation-induced, reversible, Ca(2+-permeable cation conductance blocked by inhibition of HbSS polymerization and by an inhibitor of strctch-activated cation channels. This cation permeability pathway is likely an important source of intracellular Ca(2+ for pathologic activation of KCa3.1 in sickle erythrocytes. Blockade of this pathway represents a novel therapeutic approach for treatment of sickle disease.

  19. Wind Speed and Sea State Dependencies of Air-Sea Gas Transfer: Results From the High Wind Speed Gas Exchange Study (HiWinGS)

    Science.gov (United States)

    Blomquist, B. W.; Brumer, S. E.; Fairall, C. W.; Huebert, B. J.; Zappa, C. J.; Brooks, I. M.; Yang, M.; Bariteau, L.; Prytherch, J.; Hare, J. E.; Czerski, H.; Matei, A.; Pascal, R. W.

    2017-10-01

    A variety of physical mechanisms are jointly responsible for facilitating air-sea gas transfer through turbulent processes at the atmosphere-ocean interface. The nature and relative importance of these mechanisms evolves with increasing wind speed. Theoretical and modeling approaches are advancing, but the limited quantity of observational data at high wind speeds hinders the assessment of these efforts. The HiWinGS project successfully measured gas transfer coefficients (k660) with coincident wave statistics under conditions with hourly mean wind speeds up to 24 m s-1 and significant wave heights to 8 m. Measurements of k660 for carbon dioxide (CO2) and dimethylsulfide (DMS) show an increasing trend with respect to 10 m neutral wind speed (U10N), following a power law relationship of the form: k660 CO2˜U10N1.68 and k660 dms˜U10N1.33. Among seven high wind speed events, CO2 transfer responded to the intensity of wave breaking, which depended on both wind speed and sea state in a complex manner, with k660 CO2 increasing as the wind sea approaches full development. A similar response is not observed for DMS. These results confirm the importance of breaking waves and bubble injection mechanisms in facilitating CO2 transfer. A modified version of the Coupled Ocean-Atmosphere Response Experiment Gas transfer algorithm (COAREG ver. 3.5), incorporating a sea state-dependent calculation of bubble-mediated transfer, successfully reproduces the mean trend in observed k660 with wind speed for both gases. Significant suppression of gas transfer by large waves was not observed during HiWinGS, in contrast to results from two prior field programs.

  20. Spearfishing regulation benefits artisanal fisheries: the ReGS indicator and its application to a multiple-use Mediterranean marine protected area.

    Science.gov (United States)

    Rocklin, Delphine; Tomasini, Jean-Antoine; Culioli, Jean-Michel; Pelletier, Dominique; Mouillot, David

    2011-01-01

    The development of fishing efficiency coupled with an increase of fishing effort led to the overexploitation of numerous natural marine resources. In addition to this commercial pressure, the impact of recreational activities on fish assemblages remains barely known. Here we examined the impact of spearfishing limitation on resources in a marine protected area (MPA) and the benefit it provides for the local artisanal fishery through the use of a novel indicator. We analysed trends in the fish assemblage composition using artisanal fisheries data collected in the Bonifacio Strait Natural Reserve (BSNR), a Mediterranean MPA where the spearfishing activity has been forbidden over 15% of its area. Fish species were pooled into three response groups according to their target level by spearfishing. We developed the new flexible ReGS indicator reflecting shifts in species assemblages according to the relative abundance of each response group facing external pressure. The catch per unit effort (CPUE) increased by ca. 60% in the BSNR between 2000 and 2007, while the MPA was established in 1999. The gain of CPUE strongly depended on the considered response group: for the highly targeted group, the CPUE doubled while the CPUE of the untargeted group increased by only 15.5%. The ReGS value significantly increased from 0.31 to 0.45 (on a scale between 0 and 1) in the general perimeter of this MPA while it has reached a threshold of 0.43, considered as a reference point, in the area protected from spearfishing since 1982. Our results demonstrated that limiting recreational fishing by appropriate zoning in multiple-use MPAs represents a real benefit for artisanal fisheries. More generally we showed how our new indicator may reveal a wide range of impacts on coastal ecosystems such as global change or habitat degradation.

  1. Spearfishing regulation benefits artisanal fisheries: the ReGS indicator and its application to a multiple-use Mediterranean marine protected area.

    Directory of Open Access Journals (Sweden)

    Delphine Rocklin

    Full Text Available The development of fishing efficiency coupled with an increase of fishing effort led to the overexploitation of numerous natural marine resources. In addition to this commercial pressure, the impact of recreational activities on fish assemblages remains barely known. Here we examined the impact of spearfishing limitation on resources in a marine protected area (MPA and the benefit it provides for the local artisanal fishery through the use of a novel indicator. We analysed trends in the fish assemblage composition using artisanal fisheries data collected in the Bonifacio Strait Natural Reserve (BSNR, a Mediterranean MPA where the spearfishing activity has been forbidden over 15% of its area. Fish species were pooled into three response groups according to their target level by spearfishing. We developed the new flexible ReGS indicator reflecting shifts in species assemblages according to the relative abundance of each response group facing external pressure. The catch per unit effort (CPUE increased by ca. 60% in the BSNR between 2000 and 2007, while the MPA was established in 1999. The gain of CPUE strongly depended on the considered response group: for the highly targeted group, the CPUE doubled while the CPUE of the untargeted group increased by only 15.5%. The ReGS value significantly increased from 0.31 to 0.45 (on a scale between 0 and 1 in the general perimeter of this MPA while it has reached a threshold of 0.43, considered as a reference point, in the area protected from spearfishing since 1982. Our results demonstrated that limiting recreational fishing by appropriate zoning in multiple-use MPAs represents a real benefit for artisanal fisheries. More generally we showed how our new indicator may reveal a wide range of impacts on coastal ecosystems such as global change or habitat degradation.

  2. 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. Copyright © 2015 The Society for Biotechnology, Japan. Published by Elsevier B.V. All rights reserved.

  3. Nutcracker syndrome

    International Nuclear Information System (INIS)

    Jolley, Ingrid

    2014-01-01

    Purpose: The purpose of this case study is to highlight the symptoms of the Nutcracker Syndrome (NCS), the methods of clinical investigations and the importance of differential diagnosis. Introduction: The NCS refers to left renal vein entrapment caused by abnormal branching patterns of the superior mesenteric artery from the aorta. 1,2 Clinical case presentation: A 27 years old female presented to the emergency department with complaints of abdominal discomfort, bloating, loose bowel motions and irregular micro-haematuria. The radiologist's report indicated the findings from computed tomography examination to be consistent with anterior NCS. Discussion: In most of the NCS cases the clinical symptoms are non-specific. 3 The syndrome is caused by a vascular disorder, but its clinical manifestation can relate to a wide range of abdominal, urological, endovascular or gynaecological pathologies. 4 Conclusion: Nutcracker Syndrome is a relatively rare disease and underdiagnosed may lead to left renal vein thrombosis

  4. 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.

  5. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

    Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.

  6. 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

  7. Eagle's Syndrome

    Science.gov (United States)

    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 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. PMID:25992033

  8. 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.

  9. Rapunzel syndrome

    International Nuclear Information System (INIS)

    Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed

    2006-01-01

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  10. Waardenburg syndrome

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    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.

  11. Olmsted syndrome

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    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.

  12. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  13. Turner Syndrome

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    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

  14. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.

    1989-01-01

    The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

  15. Reiter's Syndrome.

    Science.gov (United States)

    Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

    1979-01-01

    A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  16. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  17. Joubert syndrome

    International Nuclear Information System (INIS)

    Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.

    1998-01-01

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  18. 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.

  19. Meigs' Syndrome

    International Nuclear Information System (INIS)

    Baloch, S.; Khaskheli, M.; Farooq, S.

    2006-01-01

    Meigs' syndrome is a rare clinical condition commonly considered to be associated with malignant ovarian tumour. A case of unmarried female is presented who came with a slowly increasing abdominal mass. Clinical and ultrasonic investigations revealed a mobile, solid right adenexal tumour in the lower abdomen, along with ascites and pleural effusion of the right lung. The level of CA 125 was also raised. Diagnosis of Meigs' syndrome was confirmed after surgical intervention. The tumour was successfully removed and pleural effusion disappeared 15 days after the intervention. Cytomorphologic study of both the tumour and ascitic fluid was negative for malignancy. (author)

  20. [Elsberg syndrome].

    Science.gov (United States)

    Nielsen, Kristine Esbjerg; Knudsen, Troels Bygum

    2013-12-16

    A syndrome involving acute urinary retention in combination with sacral radiculitis and cerebrospinal fluid pleocytosis was first described by the American neurosurgeon Charles Elsberg in 1931. In many instances the aetiology is herpes simplex virus type 2 (HSV-2) reactivation from sensory neurons. In this case report we present a 34-year-old pregnant woman with previous undiagnosed sensory lumbosacral symptoms. She was hospitalized with HSV-2 meningitis and lumbosacral radiculitis but no genital rash. A week after the onset of symptoms she developed acute urinary retention, thus indicating Elsberg syndrome.

  1. A case report and clinical approach to silver blonde hair

    African Journals Online (AJOL)

    Sana Durrani

    2015-09-29

    Sep 29, 2015 ... Abstract 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.

  2. 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. (...

  3. 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.

  4. 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/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......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....../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...

  5. Sjogren syndrome

    NARCIS (Netherlands)

    Brito-Zeron, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel

    2016-01-01

    Sjogren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be

  6. Rett Syndrome

    Science.gov (United States)

    ... loss of interest in normal play Delayed speech development or loss of previously acquired speech abilities Problem behavior or marked mood swings Any clear loss of previously gained milestones in gross motor or fine motor skills Causes Rett syndrome is a rare genetic disorder. ...

  7. 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.

  8. Piriformis Syndrome

    Science.gov (United States)

    ... can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening. Clinical Trials Throughout the U.S. ... Definition Piriformis syndrome is a rare neuromuscular disorder that ...

  9. Hellp syndrome

    International Nuclear Information System (INIS)

    Chaudhry, A.A.

    2002-01-01

    A 24 years old female presented with hypertension, haemolysis, elevated liver enzymes and thrombocytopenia in an unconscious state after undergoing an emergency caesarian section. A diagnosis of HELLP syndrome was made on the above findings. Patient made an uneventful recovery with conservative management. A brief review of the literature is included along with the case report. (author)

  10. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  11. Carraro syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wendler, H.; Schwarz, R.

    1980-07-01

    The report concerns a girl aged 9 1/2 years who was deaf and dumb and had marked shortening of the calves with deformities of the feet and bilateral, congenital hypoplasia of the tibiae. This syndrome was first described by Carraro in 1931, but there have been no further reports since then.

  12. 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.…

  13. Alagille Syndrome

    Science.gov (United States)

    ... 3] Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2010;50(6): ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  14. Kounis syndrome

    African Journals Online (AJOL)

    neoplastic agents), exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome com prises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital ...

  15. 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.

  16. Crest syndrome

    International Nuclear Information System (INIS)

    Koch, B.; Roedl, W.

    1988-01-01

    If a patient has peri- and intra-articular calcinosis, as well as acro-osteolysis and esophageal hypomotility, and rheumatic symptoms, Crest syndrome should be considered as a manifestation of progressive systemic sclerosis. In connection with relevant symptoms on the skin and visceral involvement, radiological studies offer the possibility of classifying progressive systemic sclerosis more accurately. (orig.) [de

  17. Marfan Syndrome

    Science.gov (United States)

    ... can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early ... This helps doctors stay on top of any new problems. Doctors might also ... or kids with amblyopia or strabismus will probably need to wear glasses. ...

  18. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  19. The effect of solar-geomagnetic activity during hospital admission on coronary events within 1 year in patients with acute coronary syndromes

    Science.gov (United States)

    Vencloviene, J.; Babarskiene, R.; Milvidaite, I.; Kubilius, R.; Stasionyte, J.

    2013-12-01

    Some evidence indicates the deterioration of the cardiovascular system during space storms. It is plausible that the space weather conditions during and after hospital admission may affect the risk of coronary events in patients with acute coronary syndromes (ACS). We analyzed the data of 1400 ACS patients who were admitted to the Hospital Lithuanian University of Health Sciences, and who survived for more than 4 days. We evaluated the associations between geomagnetic storms (GS), solar proton events (SPE), and solar flares (SF) that occurred 0-3 days before and after hospital admission and the risk of cardiovascular death (CAD), non-fatal ACS, and coronary artery bypass grafting (CABG) during a period of 1 year; the evaluation was based on the multivariate logistic model, controlling for clinical data. After adjustment for clinical variables, GS occurring in conjunction with SF 1 day before admission increased the risk of CAD by over 2.5 times. GS 2 days after SPE occurred 1 day after admission increased the risk of CAD and CABG by over 2.8 times. The risk of CABG increased by over 2 times in patients admitted during the day of GS and 1 day after SPE. The risk of ACS was by over 1.63 times higher for patients admitted 1 day before or after solar flares.

  20. Gilbert’s syndrome: clinical features, diagnostics, differential diagnosis and treatment (part 2

    Directory of Open Access Journals (Sweden)

    T.V. Sorokman

    2017-02-01

    Full Text Available We searched for published and unpublished research using PubMed as the search engine by the keywords: “Gilbert’s syndrome”, “clinical manifestation”, “diagnosis”, “treatment”, taking into consideration studies conducted in the last 10 years, citation review of relevant primary and review articles, conference abstracts, personal files, and contact with expert informants. The criterion for the selection of articles for the study was based on their close relevance to the topic, thus, out of 75 analyzed articles, the findings of the researches covered in 28 articles were crucial. Clinical manifestations of Gilbert’s syndrome (GS are possible both in homozygous for UGT1A1, and in heterozygous status. A latent variant of the disease prevails in individuals with heterozygous status. Up to 30 % of homozygous for the defective gene of GS individuals have an asymptomatic course of the disease. Clinical types of GS: dyspeptic — 43.2 %, asthenovegetative — 15.9 %, icteric — 14.8 % and asymptomatic — 26.1 %. Dietary deviations, mental fatigue, stress, trauma, acute infections, including hepatitis, certain medications intake are the triggers for GS. In 86.4 % of children with GS, the pathology of the upper digestive tract was detected: duodenitis — in 58 % of cases, gastritis — in 56.8 %, esophagitis — in 12.5 %, duodenal ulcer — in 2.3 %, in 39.7 % of patients sphincter disorders were registered (duodenogastric and gastroesophageal bile reflux. The GS is characterized by reduced detoxification function of the liver, in particular in 2/3 of patients decreased hepatocyte metabolic activity was observed, the excretory function of liver cell suffers in another half of patients, the biliary tract disorders and increased risk of gallstones formation are described in 88 % of cases. Some patients with GS have certain psychological disorders, including anxiety. Diagnostic criteria for GS: 1. A peculiar pale yellowish

  1. A soft X-ray spectral episode for the Clocked Burster, GS 1826-24 as measured by Swift and NuSTAR

    DEFF Research Database (Denmark)

    Chenevez, J.; Galloway, D.K.; in ’t Zand, J.J.M.

    2016-01-01

    We report on NuSTAR and Swift observations of a soft state of the neutron star low-mass X-ray binary GS 1826–24, commonly known as the "clocked" burster. The transition to the soft state was recorded in 2014 June through an increase of the 2–20 keV source intensity measured by MAXI, simultaneous ...

  2. A 5bit 1GS/s 2.7mW 0.05mm^2 asynchronous digital slope ADC in 90nm CMOS for IR UWB radio

    NARCIS (Netherlands)

    Ding, M.; Harpe, P.J.A.; Hegt, J.A.; Philips, K.J.P.; Groot, de H.W.H.; Roermund, van A.H.M.

    2012-01-01

    A 5bit 1GS/s 0.05mm2 4× time-interleaved asynchronous digital slope ADC in 90nm CMOS for IR UWB radio is presented. New delay cells are introduced to double the speed over prior art, yielding the 250MS/s single-channel slope converter. A self-disabled comparator eliminates static leakage and

  3. Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations

    Science.gov (United States)

    Al Shibli, Amar; Narchi, Hassib

    2015-01-01

    Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in renal tubular handling of sodium, potassium and chloride. Previously considered as genotypic and phenotypic heterogeneous diseases, recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition. Although they share some characteristic metabolic abnormalities such as hypokalemia, metabolic alkalosis, hyperplasia of the juxtaglomerular apparatus with hyperreninemia, hyperaldosteronism, the clinical and laboratory manifestations may not always allow distinction between them. Diuretics tests, measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change (< 2.3%) in the fractional excretion of chloride from baseline in GS when compared with BS, except when BS is associated with KCNJ1 mutations where a good response to both diuretics exists. The diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such children. Clinical symptoms and biochemical markers of GS and classic form of BS (type III) may overlap and thus genetic analysis may specify the real cause of symptoms. However, although genetic analysis is available, its use remains limited because of limited availability, large gene dimensions, lack of hot-spot mutations, heavy workup time and costs involved. Furthermore, considerable overlap exists between the different genotypes and phenotypes. Although BS and GS usually have distinct presentations and are associated with specific gene mutations, there remains considerable overlap between their phenotypes and genotypes. Thus, they are better described as a spectrum of clinical manifestations caused by different gene mutations. PMID:26140272

  4. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Ebru Yilmaz

    2014-06-01

    Full Text Available Hepatorenal syndrome (HRS is functional renal failure that occurs with advanced liver failure. HRS is considered the most severe complication of cirrhosis. Type 1 HRS develops due to severe reduction of effective circulating volume results in hemodynamic dysfunction. Type 1 HRS is characterized by acute renal failure and rapid deterioration in the function of other organs. It can ocur spontaneously or in the setting of a precipitating event. Type 2 hepatorenal syndrome (HRS, which is characterized by slowly progressive renal failure and refractory ascites. Liver transplantation is the only definitive treatment for both type. The most suitable and ldquo;bridge treatments and rdquo; or treatment for patients ineligible for a liver transplant include terlipressin plus albumin. [J Contemp Med 2014; 4(2.000: 106-113

  5. 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+.

  6. Apert syndrome

    Directory of Open Access Journals (Sweden)

    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.

  7. 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.

  8. Paraneoplastiske syndromer

    OpenAIRE

    Røsbekk, Stein Helge

    2007-01-01

    During the last 50 years it has become clear that malignant tumours can induce symptoms unrelated to the mechanical effects of the primary tumour itself or its metastasis. Today, the name Paraneoplastic syndrome is given to those symptom complexes that may affect the blood cells, electrolytes, coagulation system, muscle, skin, nerve and the endocrine system. Endocrine symptoms were first recognised, and different hormones were isolated from the tumour tissue. However, tumour derived hormones ...

  9. Caroli's syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Numan, F; Cokyueksel, O; Camuscu, S; Demir, K; Dueren, M

    1986-07-01

    In 1958 Caroli described the syndrome of congenital, either segmental or involving the entire bile duct system, saccular extensions of the intrahepatic bile ducts. He differentiated between two types of this disease pattern. The first form concerns pure cystic dilatations of the intrahepatic bile ducts, whereas the second one is combined with hepatic fibrosis and portal hypertension. Both types are characterised by cystic dilatations in the kidneys and in the extrahepatic bile ducts, pancreas and spleen.

  10. Waardenburg syndrome

    OpenAIRE

    Mehta, Manish; Kavadu, Paresh; Chougule, Sachin

    2004-01-01

    We report a case of Waardenburg syndrome in a female child aged 2yrs. Petrus Johannes Waardenburg(1) , a Dutch Ophthalmologist in 1951 described individuals with retinal pigmentary differences who had varying degrees of hearing loss and dystopia canthorum (i.e., latral displacement of inner canthi of eyes). The disease runs in families with a dominant inheritance pattern with varying degree of clinical presentation. Patient usually present with heterochromic iris, pigmentary abnormalities of ...

  11. [PHACES syndrome].

    Science.gov (United States)

    Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

    2010-04-01

    PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

  12. Anserine syndrome.

    Science.gov (United States)

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

  13. Neonatal respiratory distress syndrome

    Science.gov (United States)

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

  14. Toxic shock syndrome

    Science.gov (United States)

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  15. Prune belly syndrome

    Science.gov (United States)

    Eagle-Barrett syndrome; Triad syndrome ... The exact causes of prune belly syndrome are unknown. The condition affects mostly boys. While in the womb, the developing baby's abdomen swells with fluid. Often, the cause is ...

  16. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: Medication ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain controls ...

  17. The Vigna Genome Server, 'VigGS': A Genomic Knowledge Base of the Genus Vigna Based on High-Quality, Annotated Genome Sequence of the Azuki Bean, Vigna angularis (Willd.) Ohwi & Ohashi.

    Science.gov (United States)

    Sakai, Hiroaki; Naito, Ken; Takahashi, Yu; Sato, Toshiyuki; Yamamoto, Toshiya; Muto, Isamu; Itoh, Takeshi; Tomooka, Norihiko

    2016-01-01

    The genus Vigna includes legume crops such as cowpea, mungbean and azuki bean, as well as >100 wild species. A number of the wild species are highly tolerant to severe environmental conditions including high-salinity, acid or alkaline soil; drought; flooding; and pests and diseases. These features of the genus Vigna make it a good target for investigation of genetic diversity in adaptation to stressful environments; however, a lack of genomic information has hindered such research in this genus. Here, we present a genome database of the genus Vigna, Vigna Genome Server ('VigGS', http://viggs.dna.affrc.go.jp), based on the recently sequenced azuki bean genome, which incorporates annotated exon-intron structures, along with evidence for transcripts and proteins, visualized in GBrowse. VigGS also facilitates user construction of multiple alignments between azuki bean genes and those of six related dicot species. In addition, the database displays sequence polymorphisms between azuki bean and its wild relatives and enables users to design primer sequences targeting any variant site. VigGS offers a simple keyword search in addition to sequence similarity searches using BLAST and BLAT. To incorporate up to date genomic information, VigGS automatically receives newly deposited mRNA sequences of pre-set species from the public database once a week. Users can refer to not only gene structures mapped on the azuki bean genome on GBrowse but also relevant literature of the genes. VigGS will contribute to genomic research into plant biotic and abiotic stresses and to the future development of new stress-tolerant crops. © The Author 2015. Published by Oxford University Press on behalf of Japanese Society of Plant Physiologists. All rights reserved. For permissions, please email: journals.permissions@oup.com.

  18. Genetics Home Reference: antiphospholipid syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Antiphospholipid syndrome Antiphospholipid syndrome Printable PDF Open All Close All Enable ... area? Other Names for This Condition anti-phospholipid syndrome antiphospholipid antibody syndrome Hughes syndrome Related Information How are ...

  19. Genetics Home Reference: Costello syndrome

    Science.gov (United States)

    ... other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and Noonan syndrome . In affected infants, it can be difficult to ... These individuals may actually have CFC syndrome or Noonan syndrome , which are caused by mutations in related genes. ...

  20. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.

    Science.gov (United States)

    Dotta, Laura; Parolini, Silvia; Prandini, Alberto; Tabellini, Giovanna; Antolini, Maddalena; Kingsmore, Stephen F; Badolato, Raffaele

    2013-10-17

    Hypopigmentation disorders that are associated with immunodeficiency feature both partial albinism of hair, skin and eyes together with leukocyte defects. These disorders include Chediak Higashi (CHS), Griscelli (GS), Hermansky-Pudlak (HPS) and MAPBP-interacting protein deficiency syndromes. These are heterogeneous autosomal recessive conditions in which the causal genes encode proteins with specific roles in the biogenesis, function and trafficking of secretory lysosomes. In certain specialized cells, these organelles serve as a storage compartment. Impaired secretion of specific effector proteins from that intracellular compartment affects biological activities. In particular, these intracellular granules are essential constituents of melanocytes, platelets, granulocytes, cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Thus, abnormalities affect pigmentation, primary hemostasis, blood cell counts and lymphocyte cytotoxic activity against microbial pathogens. Among eight genetically distinct types of HPS, only type 2 is characterized by immunodeficiency. Recently, a new subtype, HPS9, was defined in patients presenting with immunodeficiency and oculocutaneous albinism, associated with mutations in the pallidin-encoding gene, PLDN.Hypopigmentation together with recurrent childhood bacterial or viral infections suggests syndromic albinism. T and NK cell cytotoxicity are generally impaired in patients with these disorders. Specific clinical and biochemical phenotypes can allow differential diagnoses among these disorders before molecular testing. Ocular symptoms, including nystagmus, that are usually evident at birth, are common in patients with HPS2 or CHS. Albinism with short stature is unique to MAPBP-interacting protein (MAPBPIP) deficiency, while hemophagocytic lymphohistiocytosis (HLH) mainly suggests a diagnosis of CHS or GS type 2 (GS2). Neurological disease is a long-term complication of CHS, but is uncommon in other syndromic albinism. Chronic

  1. Use of agricultural statistics to verify the interannual variability in land surface models: a case study over France with ISBA-A-gs

    Directory of Open Access Journals (Sweden)

    J.-C. Calvet

    2012-01-01

    Full Text Available In order to verify the interannual variability of the above-ground biomass of herbaceous vegetation simulated by the ISBA-A-gs land surface model, within the SURFEX modelling platform, French agricultural statistics for C3 crops and grasslands were compared with the simulations for the 1994–2008 period. While excellent correlations are obtained for grasslands, representing the interannual variability of crops is more difficult. It is shown that, the Maximum Available soil Water Capacity (MaxAWC has a large influence on the correlation between the model and the agricultural statistics. In particular, high values of MaxAWC tend to reduce the impact of the climate interannual variability on the simulated biomass. Also, high values of MaxAWC allow the simulation of a negative trend in biomass production, in relation to a marked warming trend, of about 0.12 Kyr−1 on average, affecting the daily maximum air temperature during the growing period (April–June. This trend is particularly acute in Northern France. The estimates of MaxAWC for C3 crops and grasslands, currently used in SURFEX, are about 129 mm and do not vary much. Therefore, more accurate grid-cell values of this parameter are needed.

  2. Differential cross section measurement of the {sup 12}C(e,e{sup '}pp){sup 10}Be{sub g.s.} reaction

    Energy Technology Data Exchange (ETDEWEB)

    Makek, M.; Bosnar, D.; Friscic, I. [University of Zagreb, Department of Physics, Faculty of Science, Zagreb (Croatia); Achenbach, P.; Ayerbe Gayoso, C.; Bernauer, J.C.; Boehm, R.; Denig, A.; Distler, M.O.; Merkel, H.; Mueller, U.; Nungesser, L.; Pochodzalla, J.; Sanches Majos, S.; Schlimme, B.S.; Schwamb, M.; Walcher, T. [Johannes Gutenberg-Universitaet, Institut fuer Kernphysik, Mainz (Germany); Barbieri, C. [University of Surrey, Department of Physics, Guildford (United Kingdom); Giusti, C. [Universita degli Studi di Pavia, Dipartimento di Fisica, Pavia (Italy); INFN, Sezione di Pavia (Italy); Collaboration: A1 Collaboration

    2016-09-15

    The differential cross section was measured for the {sup 12}C(e,e{sup '}pp){sup 10}Be{sub g.s.} reaction at energy and momentum transfers of 163 MeV and 198 MeV/c, respectively. The measurement was performed at the Mainz Microtron by using two high-resolution magnetic spectrometers of the A1 Collaboration and a newly developed silicon detector telescope. The overall resolution of the detector system was sufficient to distinguish the ground state from the first excited state in {sup 10}Be. We chose a super-parallel geometry that minimizes the effect of two-body currents and emphasizes the effect of nucleon-nucleon correlations. The obtained differential cross section is compared to the theoretical results of the Pavia reaction code in which different processes leading to two-nucleon knockout are accounted for microscopically. The comparison shows a strong sensitivity to nuclear-structure input and the measured cross section is seen to be dominated by the interplay between long- and short-range nucleon-nucleon correlations. Microscopic calculations based on the ab initio self-consistent Green's function method give a reasonable description of the experimental cross section. (orig.)

  3. Acute nephritic syndrome

    Science.gov (United States)

    Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute ... Acute nephritic syndrome is often caused by an immune response triggered by an infection or other disease. Common causes in children ...

  4. GITELMAN SYNDROME AND PREGNANCY- A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Venkatachalam Sibiya

    2017-09-01

    Full Text Available PRESENTATION OF CASE A 22 years old G2 P1 D1 came with complaints of shivering of both upper limb and lower limb. She was diagnosed with Gitelman syndrome in previous pregnancy. Previous was a preterm delivery due to polyhydramnios and the baby died at 12 days of life due to some congenital malformation of heart. In previous pregnancy, patient presented with paralysis at 6 months of gestation and was treated conservatively by correcting the electrolytes level. In the present pregnancy, patient had persistent hypokalaemia and hypomagnesaemia, which was treated. Anomaly scan was done. No gross anomaly was detected. Patient is symptomatically better and she is continuing her pregnancy, hope better outcome since GS has no adverse effect on pregnancy.

  5. McCune-Albright syndrome

    Directory of Open Access Journals (Sweden)

    Collins Michael T

    2008-05-01

    Full Text Available Abstract McCune-Albright syndrome (MAS is classically defined by the clinical triad of fibrous dysplasia of bone (FD, café-au-lait skin spots, and precocious puberty (PP. It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common and may be progressive. In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys, other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting. Café-au-lait spots usually appear in the neonatal period, but it is most often PP or FD that brings the child to medical attention. Renal involvement is seen in approximately 50% of the patients with MAS. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. Diagnosis of MAS is usually established on clinical grounds. Plain radiographs are often sufficient to make the diagnosis of FD and biopsy of FD lesions can confirm the diagnosis. The evaluation of patients with MAS should be guided by knowledge of the spectrum of tissues that may be involved, with specific testing for each. Genetic testing is possible, but is not routinely available. Genetic counseling, however, should be offered. Differential diagnoses include neurofibromatosis, osteofibrous dysplasia, non-ossifying fibromas, idiopathic central precocious puberty, and ovarian neoplasm. Treatment is dictated by the tissues affected, and the extent to which they are affected. Generally, some form of surgical intervention

  6. Morvan Syndrome

    Science.gov (United States)

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  7. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  8. Robinow syndrome

    Directory of Open Access Journals (Sweden)

    Suresh S

    2008-01-01

    Full Text Available Robinow syndrome is a rare autosomal recessive mesomelic dwarfism with just more than 100 cases reported in the literature so far. The lower extremity is spared with skeletal deformity usually confined to the forearm, hand, and the dorsal spine. Diagnosis is made easily in the early childhood by the typical "fetal facies" appearance, which disappears to a certain extent as the patient grows. The author reports two cases of this entity with vertebral segmentation defects, rib fusion, and typical severe brachymelia and facial features.

  9. Trichorhinophalangeal syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Tuzovic, S.; Fiebach, B.J.O.; Magnus, L.; Sauerbrei, H.U.

    1982-11-01

    This article reports on 14 cases of a trichorhinophalangeal syndrome in five successive generations. Besides the well-known characteristics of the TRPS the following symptoms observed in this family are new: Teething was considerably delayed, intelligence was reduced, and there were skin manifestations resembling eczema. Besides, struma colli and colitis ulcerosa were also observed. Subsequent observations have to clarify whether these symptoms are a facultative part of the TRPS pattern. The constant appearance of carriers of these characteristics during five generation points to dominant heredity.

  10. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  11. OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

  12. Solvarmeanlægs energibesparelser

    DEFF Research Database (Denmark)

    Furbo, Simon; Fan, Jianhua

    Energy savings for a number of new solar heating systems in one family houses have been determined by means of information on the energy consumption of the houses before and after installation of the solar heating systems. The investigated solar heating systems are marketed by Velux Danmark A...... of the houses used as the auxiliary energy systems for the solar heating systems. The yearly energy savings for the houses where the only change is the installation of the solar heating system vary from 300 kWh per m² solar collector to 1300 kWh per m² solar collector. The average yearly energy savings is about....../S, Sonnnenkraft Scandinavia A/S and Batec Solvarme A/S. Solar domestic hot water systems as well as solar combi systems are included in the investigations The houses have different auxiliary energy supply systems: Natural gas boilers, oil fired burners, electrical heating and district heating. Some of the houses...

  13. Til vægs

    DEFF Research Database (Denmark)

    Egemose, Ellen

    abstraktion og mellem rumlighed og flade, og som i varierende grad strider mod at underordne sig motivernes figurer og handling. Med afsæt fra Wolfgang Iser og Wolfgang Kemps receptionsæstetik – og i et indledende forsøg på at kaste et kritisk blik på projektets geografiske empiriafgrænsning – spørger jeg: Er...

  14. PI3Kδ inhibitor idelalisib in combination with BTK inhibitor ONO/GS-4059 in diffuse large B cell lymphoma with acquired resistance to PI3Kδ and BTK inhibitors.

    Directory of Open Access Journals (Sweden)

    Anella Yahiaoui

    Full Text Available Activated B-cell-like diffuse large B-cell lymphoma relies on B-cell receptor signaling to drive proliferation and survival. Downstream of the B-cell receptor, the key signaling kinases Bruton's tyrosine kinase and phosphoinositide 3-kinase δ offer opportunities for therapeutic intervention by agents such as ibrutinib, ONO/GS-4059, and idelalisib. Combination therapy with such targeted agents could provide enhanced efficacy due to complimentary mechanisms of action. In this study, we describe both the additive interaction of and resistance mechanisms to idelalisib and ONO/GS-4059 in a model of activated B-cell-like diffuse large B-cell lymphoma. Significant tumor regression was observed with a combination of PI3Kδ and Bruton's tyrosine kinase inhibitors in the mouse TMD8 xenograft. Acquired resistance to idelalisib in the TMD8 cell line occurred by loss of phosphatase and tensin homolog and phosphoinositide 3-kinase pathway upregulation, but not by mutation of PIK3CD. Sensitivity to idelalisib could be restored by combining idelalisib and ONO/GS-4059. Further evaluation of targeted inhibitors revealed that the combination of idelalisib and the phosphoinositide-dependent kinase-1 inhibitor GSK2334470 or the AKT inhibitor MK-2206 could partially overcome resistance. Characterization of acquired Bruton's tyrosine kinase inhibitor resistance revealed a novel tumor necrosis factor alpha induced protein 3 mutation (TNFAIP3 Q143*, which led to a loss of A20 protein, and increased p-IκBα. The combination of idelalisib and ONO/GS-4059 partially restored sensitivity in this resistant line. Additionally, a mutation in Bruton's tyrosine kinase at C481F was identified as a mechanism of resistance. The combination activity observed with idelalisib and ONO/GS-4059, taken together with the ability to overcome resistance, could lead to a new therapeutic option in activated B-cell-like diffuse large B-cell lymphoma. A clinical trial is currently underway to

  15. Cardiorenal syndrome

    Directory of Open Access Journals (Sweden)

    Sabry Omar

    2013-01-01

    Full Text Available Cardiovascular disease is the leading cause of death in patients with chronic kidney disease.  Heart failure may lead to acute kidney injury and vice versa. Chronic kidney disease may affect the clinical outcomes in patients with cardiovascular disorders. Renal impairment with any degree of albuminuria has been increasingly recognized as an independent risk factor for cardiovascular events and heart failure hospitalizations, while chronic heart failure may cause chronic kidney disease. The bidirectional nature of these disorders contributes to the complexity and the composite definitions of cardiorenal syndromes. However, the most important clinical trials in heart failure tend to exclude patients with significant renal dysfunction. The mechanisms whereby renal insufficiency worsens the outcome in heart failure are not known, and several pathways could contribute to the ‘‘vicious heart/kidney circle.’’ Traditionally, renal impairment has been attributed to the renal hypoperfusion due to reduced cardiac output and decreased systemic pressure. The hypovolemia leads to sympathetic activity, increased renin-angiotensin aldosterone pathway, and arginine-vasopressin release. These mechanisms cause fluid and sodium retention, peripheral vasoconstriction, and volume overload. Therapy to improve renal dysfunction, reduce neurohormonal activation and ameliorate renal blood flow could lead to a reduction in mortality and hospitalization in patients with cardiorenal syndrome.

  16. Lowe syndrome

    Directory of Open Access Journals (Sweden)

    Loi Mario

    2006-05-01

    Full Text Available Abstract Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. It is a uncommon, panethnic, X-linked disease, with estimated prevalence in the general population of approximately 1 in 500,000. Bilateral cataract and severe hypotonia are present at birth. In the subsequent weeks or months, a proximal renal tubulopathy (Fanconi-type becomes evident and the ocular picture may be complicated by glaucoma and cheloids. Psychomotor retardation is evident in childhood, while behavioural problems prevail and renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1, coding for the enzyme phosphatidylinositol (4,5 bisphosphate 5 phosphatase, PtdIns (4,5P2, in the trans-Golgi network is responsible for the disease. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease. The treatment includes: cataract extraction, glaucoma control, physical and speech therapy, use of drugs to address behavioural problems, and correction of the tubular acidosis and the bone disease with the use of bicarbonate, phosphate, potassium and water. Life span rarely exceeds 40 years.

  17. Cotard Syndrome.

    Science.gov (United States)

    Dieguez, Sebastian

    2018-01-01

    Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

  18. KBG syndrome

    Directory of Open Access Journals (Sweden)

    Brancati Francesco

    2006-12-01

    Full Text Available Abstract KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral anomalies and developmental delay. To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG anomalies (with or without seizures and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Autosomal dominant transmission has been observed in some families, and it is predominantly the mother, often showing a milder clinical picture, that transmits the disease. The diagnosis is currently based solely on clinical findings as the aetiology is unknown. The final diagnosis is generally achieved after the eruption of upper permanent central incisors at 7–8 years of age when the management of possible congenital anomalies should have been already planned. A full developmental assessment should be done at diagnosis and, if delays are noted, an infant stimulation program should be initiated. Subsequent management and follow-up should include an EEG, complete orthodontic evaluation, skeletal investigation with particular regard to spine curvatures and limb asymmetry, hearing testing and ophthalmologic assessment.

  19. Elsberg syndrome

    Science.gov (United States)

    Savoldi, Filippo; Kaufmann, Timothy J.; Flanagan, Eoin P.; Toledano, Michel

    2017-01-01

    Objective: Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. Methods: We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Results: Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. Conclusion: ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis. PMID:28534040

  20. Sotos syndrome

    Directory of Open Access Journals (Sweden)

    Cormier-Daire Valérie

    2007-09-01

    Full Text Available Abstract Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC, advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (

  1. Marfan Syndrome (For Parents)

    Science.gov (United States)

    ... en español Síndrome de Marfan What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's ... bones , blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one ...

  2. Burnout Syndrome of Teachers

    OpenAIRE

    Semrádová, Michaela

    2013-01-01

    The bachelor's thesis covers burnout syndrome of teachers. Defines burnout syndrome, describes its causes and symptoms. Describes teaching as helping profession and focousing on stressful situations at school. In the last chapter described different prevention strategies burnout syndrome. Key words: burnout syndrome, teaching, teacher, helping professions, beginning teacher, stress

  3. Turner Syndrome (For Teens)

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  4. Assimilation of Soil Wetness Index and Leaf Area Index into the ISBA-A-gs land surface model: grassland case study

    Directory of Open Access Journals (Sweden)

    A. L. Barbu

    2011-07-01

    Full Text Available The performance of the joint assimilation in a land surface model of a Soil Wetness Index (SWI product provided by an exponential filter together with Leaf Area Index (LAI is investigated. The data assimilation is evaluated with different setups using the SURFEX modeling platform, for a period of seven years (2001–2007, at the SMOSREX grassland site in southwestern France. The results obtained with a Simplified Extended Kalman Filter demonstrate the effectiveness of a joint data assimilation scheme when both SWI and Leaf Area Index are merged into the ISBA-A-gs land surface model. The assimilation of a retrieved Soil Wetness Index product presents several challenges that are investigated in this study. A significant improvement of around 13 % of the root-zone soil water content is obtained by assimilating dimensionless root-zone SWI data. For comparison, the assimilation of in situ surface soil moisture is considered as well. A lower impact on the root zone is noticed. Under specific conditions, the transfer of the information from the surface to the root zone was found not accurate. Also, our results indicate that the assimilation of in situ LAI data may correct a number of deficiencies in the model, such as low LAI values in the senescence phase by using a seasonal-dependent error definition for background and observations. In order to verify the specification of the errors for SWI and LAI products, a posteriori diagnostics are employed. This approach highlights the importance of the assimilation design on the quality of the analysis. The impact of data assimilation scheme on CO2 fluxes is also quantified by using measurements of net CO2 fluxes gathered at the SMOSREX site from 2005 to 2007. An improvement of about 5 % in terms of rms error is obtained.

  5. An optimally tuned ensemble of the "eb_go_gs" configuration of GENIE: parameter sensitivity and bifurcations in the Atlantic overturning circulation

    Directory of Open Access Journals (Sweden)

    R. Marsh

    2013-10-01

    Full Text Available The key physical parameters for the "eb_go_gs" configuration of version 2.7.4 of GENIE, an Earth system model of intermediate complexity (EMIC, are tuned using a multi-objective genetic algorithm. An ensemble of 90 parameter sets is tuned using two ocean and two atmospheric state variables as targets. These are "Pareto-optimal", representing a range of trade-offs between the four tuning targets. For the leading five parameter sets, simulations are evaluated alongside a simulation with untuned "default" parameters, comparing selected variables and diagnostics that describe the state of the atmosphere, ocean and sea ice. Further experiments are undertaken with these selected parameter sets to compare equilibrium climate sensitivities and transient climate responses. The pattern of warming under doubled CO2 is strongly shaped by changes in the Atlantic meridional overturning circulation (AMOC, while the pattern and rate of warming under rising CO2 is closely linked to changing sea ice extent. One of the five tuned parameter sets is identified as marginally optimal, and the objective function (error landscape is further analysed in the vicinity of the tuned values of this parameter set. "Cliffs" along some dimensions motivate closer inspection of corresponding variations in the AMOC. This reveals that bifurcations in the AMOC are highly sensitive to parameters that are not typically associated with MOC stability. Specifically, the state of the AMOC is sensitive to parameters governing the wind-driven circulation and atmospheric heat transport. For the GENIE configuration presented here, the marginally optimal parameter set is recommended for single simulations, although the leading five parameter sets may be used in ensemble mode to admit a constrained degree of parametric uncertainty in climate prediction.

  6. Glycyrrhetic acid synergistically enhances β₂-adrenergic receptor-Gs signaling by changing the location of Gαs in lipid rafts.

    Directory of Open Access Journals (Sweden)

    Qian Shi

    Full Text Available Glycyrrhetic acid (GA exerts synergistic anti-asthmatic effects via a β₂-adrenergic receptor (β₂AR-mediated pathway. Cholesterol is an important component of the structure and function of lipid rafts, which play critical roles in the β₂AR-Gs-adenylate cyclase (AC-mediated signaling pathway. Owing to the structural similarities between GA and cholesterol, we investigated the possibility that GA enhances β₂AR signaling by altering cholesterol distribution. Azide-terminal GA (ATGA was synthesized and applied to human embryonic kidney 293 (HEK293 cells expressing fusion β₂AR, and the electron spin resonance (ESR technique was utilized. GA was determined to be localized predominantly on membrane and decreased their cholesterol contents. Thus, the fluidity of the hydrophobic region increased but not the polar surface of the cell membrane. The conformations of membrane proteins were also changed. GA further changed the localization of Gαs from lipid rafts to non-raft regions, resulting the binding of β₂AR and Gαs, as well as in reduced β₂AR internalization. Co-localization of β₂AR, Gαs, and AC increased isoproterenol-induced cAMP production and cholesterol reloading attenuated this effect. A speculation wherein GA enhances beta-adrenergic activity by increasing the functional linkage between the subcomponents of the membrane β₂AR-protein kinase A (PKA signaling pathway was proposed. The enhanced efficacy of β₂AR agonists by this novel mechanism could prevent tachyphylaxis.

  7. Adaptive Activation of a Stress Response Pathway Improves Learning and Memory Through Gs and β-Arrestin-1-Regulated Lactate Metabolism.

    Science.gov (United States)

    Dong, Jun-Hong; Wang, Yi-Jing; Cui, Min; Wang, Xiao-Jing; Zheng, Wen-Shuai; Ma, Ming-Liang; Yang, Fan; He, Dong-Fang; Hu, Qiao-Xia; Zhang, Dao-Lai; Ning, Shang-Lei; Liu, Chun-Hua; Wang, Chuan; Wang, Yue; Li, Xiang-Yao; Yi, Fan; Lin, Amy; Kahsai, Alem W; Cahill, Thomas Joseph; Chen, Zhe-Yu; Yu, Xiao; Sun, Jin-Peng

    2017-04-15

    Stress is a conserved physiological response in mammals. Whereas moderate stress strengthens memory to improve reactions to previously experienced difficult situations, too much stress is harmful. We used specific β-adrenergic agonists, as well as β 2 -adrenergic receptor (β2AR) and arrestin knockout models, to study the effects of adaptive β2AR activation on cognitive function using Morris water maze and object recognition experiments. We used molecular and cell biological approaches to elucidate the signaling subnetworks. We observed that the duration of the adaptive β2AR activation determines its consequences on learning and memory. Short-term formoterol treatment, for 3 to 5 days, improved cognitive function; however, prolonged β2AR activation, for more than 6 days, produced harmful effects. We identified the activation of several signaling networks downstream of β2AR, as well as an essential role for arrestin and lactate metabolism in promoting cognitive ability. Whereas Gs-protein kinase A-cyclic adenosine monophosphate response element binding protein signaling modulated monocarboxylate transporter 1 expression, β-arrestin-1 controlled expression levels of monocarboxylate transporter 4 and lactate dehydrogenase A through the formation of a β-arrestin-1/phospho-mitogen-activated protein kinase/hypoxia-inducible factor-1α ternary complex to upregulate lactate metabolism in astrocyte-derived U251 cells. Conversely, long-term treatment with formoterol led to the desensitization of β2ARs, which was responsible for its decreased beneficial effects. Our results not only revealed that β-arrestin-1 regulated lactate metabolism to contribute to β2AR functions in improved memory formation, but also indicated that the appropriate management of one specific stress pathway, such as through the clinical drug formoterol, may exert beneficial effects on cognitive abilities. Copyright © 2016 Society of Biological Psychiatry. All rights reserved.

  8. Distraction osteogenesis therapy in patients affected by Goldenhar syndrome: a case series

    Directory of Open Access Journals (Sweden)

    Francesco Grecchi

    2011-06-01

    Full Text Available Background: Hemifacial microsomia (HM is a syndrome characterized by the presence of structural alterations of the skeletal, nervous, vascular, and muscular structures derived from the first and second branchial arch. Goldenhar syndrome (Gs consistisof the triad of craniofacial microsomia, ocular dermoid cysts, and spinal anomalies. When the patient has hypoplasia of the mandible, orthognatic surgery or distraction osteogenesis (DO can be used to correct the asymmetry. Mandibular DO has been applied for many years, but long-term reports showed controversial results. The aim of this paper is to describe three cases of patients affected by Gs in which DO was performed to correct the mandibular asymmetry. Case series: The cases reported show an increasing degree of dismorphism which required a increasing complexity of the surgical approach: a single mandibular DO in the first patient, and a mandibular DO associated with a Le Fort I osteotomy in the second one, a double mandibular DO associated with Le Fort I and surgical disjunction of the middle palatal suture in the third case. Discussion: The effects of DO involve not only the skeletal segment but also all the surrounding soft tissues. DO leads to rapid and remarkable improvement in facial symmetry due to emimandible hypoplasia. When correct spatial repositioning of the maxilla cann ot be expected, mandibular DO can be carried out by associating a Le Fort I osteotomy. In this way DO minimize the need for major osteotomies and allows an earlier treatment in selected cases.

  9. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  10. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

    2009-01-01

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  11. Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.

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    Kei-ichi Morita

    Full Text Available Gorlin syndrome (GS is an autosomal dominant disorder that predisposes affected individuals to developmental defects and tumorigenesis, and caused mainly by heterozygous germline PTCH1 mutations. Despite exhaustive analysis, PTCH1 mutations are often unidentifiable in some patients; the failure to detect mutations is presumably because of mutations occurred in other causative genes or outside of analyzed regions of PTCH1, or copy number alterations (CNAs. In this study, we subjected a cohort of GS-affected individuals from six unrelated families to next-generation sequencing (NGS analysis for the combined screening of causative alterations in Hedgehog signaling pathway-related genes. Specific single nucleotide variations (SNVs of PTCH1 causing inferred amino acid changes were identified in four families (seven affected individuals, whereas CNAs within or around PTCH1 were found in two families in whom possible causative SNVs were not detected. Through a targeted resequencing of all coding exons, as well as simultaneous evaluation of copy number status using the alignment map files obtained via NGS, we found that GS phenotypes could be explained by PTCH1 mutations or deletions in all affected patients. Because it is advisable to evaluate CNAs of candidate causative genes in point mutation-negative cases, NGS methodology appears to be useful for improving molecular diagnosis through the simultaneous detection of both SNVs and CNAs in the targeted genes/regions.

  12. Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.

    Science.gov (United States)

    Morita, Kei-ichi; Naruto, Takuya; Tanimoto, Kousuke; Yasukawa, Chisato; Oikawa, Yu; Masuda, Kiyoshi; Imoto, Issei; Inazawa, Johji; Omura, Ken; Harada, Hiroyuki

    2015-01-01

    Gorlin syndrome (GS) is an autosomal dominant disorder that predisposes affected individuals to developmental defects and tumorigenesis, and caused mainly by heterozygous germline PTCH1 mutations. Despite exhaustive analysis, PTCH1 mutations are often unidentifiable in some patients; the failure to detect mutations is presumably because of mutations occurred in other causative genes or outside of analyzed regions of PTCH1, or copy number alterations (CNAs). In this study, we subjected a cohort of GS-affected individuals from six unrelated families to next-generation sequencing (NGS) analysis for the combined screening of causative alterations in Hedgehog signaling pathway-related genes. Specific single nucleotide variations (SNVs) of PTCH1 causing inferred amino acid changes were identified in four families (seven affected individuals), whereas CNAs within or around PTCH1 were found in two families in whom possible causative SNVs were not detected. Through a targeted resequencing of all coding exons, as well as simultaneous evaluation of copy number status using the alignment map files obtained via NGS, we found that GS phenotypes could be explained by PTCH1 mutations or deletions in all affected patients. Because it is advisable to evaluate CNAs of candidate causative genes in point mutation-negative cases, NGS methodology appears to be useful for improving molecular diagnosis through the simultaneous detection of both SNVs and CNAs in the targeted genes/regions.

  13. [Syndrome X vs metabolic syndrome].

    Science.gov (United States)

    Morales Villegas, Enrique

    2006-01-01

    Himsworth in 1939 postulated that Diabetes Mellitus type 2 (DM2) was not only an insulin deficiency state but also a cellular insulin insensitivity disease. Thirty years later, DeFronzo and Reaven demonstrated that insulin resistance (IR) preceded and predisposed for DM2 and atherosclerotic-cardiovascular-disease (ACVD). Reaven was the first to point out the relationship between IR and with hyperglycemia, dyslipidosis, and hypertension as mediators for ACVD, creating the concept of Syndrome X (SX) in 1988. WHO and, thereafter, other medical societies and medical groups, mainly ATP-III, in 2002, based on the difficulty of diagnosing IR in a simple, reliable, and inexpensive way, proposed and published the Metabolic Syndrome (MS) concept, as a group of five variables, i.e., obesity, hyperglycemia, hypertriglyceridemia, low HDL, and hypertension, as an easy clinical approximation to suspect and treat an increased cardiometabolic risk. Nowadays, there are deep and extensive controversies on this issue; however, these controversies do not really exist since all discordant points of view are rather quantitative and not qualitative in nature. This article is aimed at differentiating and harmonizing the complementary concepts of SX and MS, at analyzing why MS is a good "clinical window" to look for IR and its underlying manifestations, and finally to accept that the MS concept complements, but does not substitute or antagonize, traditional scales used to asses cardiovascular risk, such as the Framingham scale.

  14. Metabolic Syndrome: Polycystic Ovary Syndrome.

    Science.gov (United States)

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

  15. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  16. Gorlin's syndrome.

    Science.gov (United States)

    Ramsden, R T; Barrett, A

    1975-06-01

    The uncommon familial syndrome of multiple odontogenic keratocysts, basal cell naevi and skeletal anomalies is reviewed, and seven cases are described, including one patient who developed squamous cell carcinoma in a previous odontogenic keratocyst of the maxilla. We wish to thank Consultants from the Royal National Throat, Nose and Ear Hospital, The Middlesex Hospital and the Eastman Dental Hospital, who allowed us access to their patients; Mr. D. Garfield Davies, Dr. M. F. Spittle, Mr. D. Winstock, Mr. H. P. Cook, Professor H. C. Killey and Mr. L. W. Kay. We are grateful to Professor L. Michaels and Mr. D. J. Connolly for preparation of the illustrations and to Mrs. A. Matthews for the typescript.

  17. HEPATORENAL SYNDROME

    Directory of Open Access Journals (Sweden)

    Matjaž Hafner

    2001-12-01

    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  18. Reduction by the Positive Allosteric Modulator of the GABAB Receptor, GS39783, of Alcohol Self-Administration in Sardinian Alcohol-Preferring Rats Exposed to the “Sipper” Procedure

    Science.gov (United States)

    Maccioni, Paola; Flore, Paolo; Carai, Mauro A. M.; Mugnaini, Claudia; Pasquini, Serena; Corelli, Federico; Gessa, Gian Luigi; Colombo, Giancarlo

    2010-01-01

    The present study was designed to evaluate (a) alcohol self-administration behavior of selectively bred, Sardinian alcohol-preferring (sP) rats exposed to the so-called “sipper” procedure (characterized by the temporal separation between alcohol-seeking and -taking phases), and (b) the effect of the positive allosteric modulator of the GABAB receptor, GS39783, on alcohol self-administration in sP rats exposed to this procedure. To this end, sP rats were initially trained to lever-respond under a reinforcement requirement (RR) 55 (RR55) for alcohol. Achievement of RR55 resulted in the 20-min presentation of the alcohol (15%, v/v)-containing sipper bottle. Once stable levels of lever-responding and alcohol consumption were reached, rats were treated with 0, 25, 50, and 100 mg/kg GS39783 (i.g.) 60 min before the self-administration session. Rats displayed robust alcohol-seeking (as suggested by relatively short latencies to the first lever-response and high frequencies of lever-responding) and -taking (as suggested by alcohol intakes averaging approximately 1.5 g/kg) behaviors. Pretreatment with GS39783 inhibited both alcohol-seeking (the number of rats achieving RR55 and the mean RR value were virtually halved) and -taking (the amount of self-administered alcohol was reduced by approximately 60%). The results of the present study suggest the power of the “sipper” procedure in triggering high levels of alcohol-seeking and -taking behavior in sP rats. Further, these results extend to this additional procedure of alcohol self-administration the capacity of GS39783 to reduce the motivational properties of alcohol and alcohol consumption in sP rats. PMID:21423431

  19. Reduction by the positive allosteric modulator of the GABAB receptor, GS39783, of alcohol self-administration in Sardinian alcohol-preferring rats exposed to the “sipper” procedure

    Directory of Open Access Journals (Sweden)

    Paola Maccioni

    2010-07-01

    Full Text Available The present study was designed to evaluate (a alcohol self-administration behavior of selectively bred, Sardinian alcohol-preferring (sP rats exposed to the so-called “sipper” procedure (characterized by the temporal separation between alcohol-seeking and -taking phases, and (b the effect of the positive allosteric modulator of the GABAB receptor, GS39783, on alcohol self-administration in sP rats exposed to this procedure. To this end, sP rats were initially trained to lever-respond under a reinforcement requirement (RR 55 (RR55 for alcohol. Achievement of RR55 resulted in the 20-min presentation of the alcohol (15%, v/v-containing sipper bottle. Once stable levels of lever-responding and alcohol consumption were reached, rats were treated with 0, 25, 50, and 100 mg/kg GS39783 (i.g. 60 min before the self-administration session. Rats displayed robust alcohol-seeking (as suggested by relatively short latencies to the first lever-response and high frequencies of lever-responding and -taking (as suggested by alcohol intakes averaging approximately 1.5 g/kg behaviors. Pretreatment with GS39783 inhibited both alcohol-seeking (the number of rats achieving RR55 and the mean RR value were virtually halved and -taking (the amount of self-administered alcohol was reduced by approximately 60%. The results of the present study suggest the power of the “sipper” procedure in triggering high levels of alcohol-seeking and -taking behavior in sP rats. Further, these results extend to this additional procedure of alcohol self-administration the capacity of GS39783 to reduce the motivational properties of alcohol and alcohol consumption in sP rats.

  20. Noonan syndrome

    Directory of Open Access Journals (Sweden)

    van der Burgt Ineke

    2007-01-01

    Full Text Available Abstract Noonan Syndrome (NS is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency and lymphatic dysplasias. The syndrome is transmitted as an autosomal dominant trait. In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein. Recently, mutations in the KRAS gene have been identified in a small proportion of patients with NS. A DNA test for mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. NS should be considered in all foetuses with polyhydramnion, pleural effusions, oedema and increased nuchal fluid with a normal karyotype. With special care and counselling, the majority of children with NS will grow up and function normally in the adult world. Management should address feeding problems in early childhood, evaluation of cardiac function and assessment of growth and motor development. Physiotherapy and/or speech therapy should be offered if indicated. A complete eye examination and hearing evaluation should be performed during the first few years of schooling. Preoperative coagulation studies are indicated. Signs and symptoms lessen with age and most adults with NS do not require special medical care.

  1. [The correlation between personality characteristics and burnout syndrome in emergency ambulance workers].

    Science.gov (United States)

    Bergmueller, A; Zavgorodnii, I; Zavgorodnia, N; Kapustnik, W; Boeckelmann, I

    The work in Emergency Medical Ambulance Service is one of the professions, which is accompanied by high psychological and emotional stress. The aim was to determine the risk of professional burnout syndrome of Emergency Medical Ambulance Service staff and the relationship between burnout syndrome and personality. Ninety-seven doctors (57 women and 40 men, aged 37.0±12.21) of Emergency Medical Ambulance Service were interviewed using the MBI-GS questionnaire and the Freiburg personality questionnaire (FPI). Correlation and regression analysis were used. Nine (11.5%) of respondents had a risk of burnout syndrome and 28 (35.9%) had some symptoms. In the group, aged 45 years and older, the risk of burnout syndrome was not identified. The staff of Emergency Medical Ambulance Service is characterized by stable personality features. It is necessary to identify the prevalence of burnout syndrome and also to identity the causes for its prevention and development of measures on the increase of personal stress resilience.

  2. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  3. Simultaneous Decolorization and Biohydrogen Production from Xylose by Klebsiella oxytoca GS-4-08 in the Presence of Azo Dyes with Sulfonate and Carboxyl Groups

    Science.gov (United States)

    Cao, Ming-yue; Wang, Peng-tao; Wang, Shi; Yue, Ying-rong; Yuan, Wen-duo; Qiao, Wei-chuan; Wang, Fei

    2017-01-01

    ABSTRACT Biohydrogen production from the pulp and paper effluent containing rich lignocellulosic material could be achieved by the fermentation process. Xylose, an important hemicellulose hydrolysis product, is used less efficiently as a substrate for biohydrogen production. Moreover, azo dyes are usually added to fabricate anticounterfeiting paper, which further increases the complexity of wastewater. This study reports that xylose could serve as the sole carbon source for a pure culture of Klebsiella oxytoca GS-4-08 to achieve simultaneous decolorization and biohydrogen production. With 2 g liter−1 of xylose as the substrate, a maximum xylose utilization rate (URxyl) and a hydrogen molar yield (HMY) of 93.99% and 0.259 mol of H2 mol of xylose−1, respectively, were obtained. Biohydrogen kinetics and electron equivalent (e− equiv) balance calculations indicated that methyl red (MR) penetrates and intracellularly inhibits both the pentose phosphate pathway and pyruvate fermentation pathway, while methyl orange (MO) acted independently of the glycolysis and biohydrogen pathway. The data demonstrate that biohydrogen pathways in the presence of azo dyes with sulfonate and carboxyl groups were different, but the azo dyes could be completely reduced during the biohydrogen production period in the presence of MO or MR. The feasibility of hydrogen production from industrial pulp and paper effluent by the strain if the xylose is sufficient was also proved and was not affected by toxic substances which usually exist in such wastewater, except for chlorophenol. This study offers a promising energy-recycling strategy for treating pulp and paper wastewaters, especially for those containing azo dyes. IMPORTANCE The pulp and paper industry is a major industry in many developing countries, and the global market of pulp and paper wastewater treatment is expected to increase by 60% between 2012 and 2020. Such wastewater contains large amounts of refractory contaminants, such

  4. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  5. Hepatorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Pınar Zeyneloğlu

    2012-04-01

    Full Text Available Renal failure is a common major complication in patients with advanced cirrhosis and generally indicates a poor prognosis when combined with liver failure. Hepatorenal syndrome (HRS is characterised by a combination of disturbances in circulatory and kidney function. Arterial pressure is decreased in the systemic circulation due to reduced total systemic vascular resistance. Kidney dysfunction is caused by reduction in renal blood flow. The diagnosis of HRS is based on exclusion of other disorders that cause acute kidney injury in cirrhosis as there are no specific tests. There are two types of HRS with different characteristics and prognostics. Liver transplantation is the treatment of choice for all patients without contraindication. The best approach to the pharmacologic management is the administration vasoconstrictor drugs based on the pathogenesis. Many vasoconstrictors including vasopressin analogues (terlipressin, ornipressin and vasopressin, somatostatin analogues (octreotide and alpha-adrenergic analogues (midodrine and norepinephrine have been studied. In most of the studies intravenous albumin therapy was coadministered with vasoconstrictor drugs and suggested that albumin should be considered as the component of pharmacologic intervention in patients with HRS. Renal replacement therapy in the form of hemodialysis or continuous venovenous hemofiltration has been used in the management of HRS patients awaiting transplantation or in those with acute potentially reversible conditions. The artificial hepatic support systems require further investigation. (Journal of the Turkish Society Intensive Care 2012; 10: 37-44

  6. Pseudohypopituitary syndromes.

    Science.gov (United States)

    Heinze, E; Holl, R W

    1992-07-01

    In a child with short stature, the finding of normal or elevated GH levels in the presence of low concentrations of IGF-I raises the following possibilities. (1) A modification of the GH molecule, which is still detected by RIA, but inactive biologically. Therefore, an RRA or bioassay for hGH should result in considerably lower GH measurements compared with RIA determinations in the same sample. As both bioassays as well as RRAs are not widely available and are hampered by several difficulties, few children with this presumptive diagnosis have been described. So far, it has not been possible to define a specific molecular defect in one of these patients. (2) Abnormalities of the GH receptor or postreceptor mechanisms lead to a GH insensitivity syndrome. Laron-type dwarfism is usually due to a deletion in the gene for hepatic GH receptors: the serum binding protein for GH is absent. In three additional populations, the Pygmies of Zaire, the little women of Loja in Ecuador and the Mountain Ok people in Papua New Guinea, alterations of GH receptor function have been described. Finally, some reports describe patients with normal or elevated serum levels of both growth hormone and IGF-I in whom resistance to IGF has been implied in the pathogenesis of small stature.

  7. Hepatorenal syndrome.

    Science.gov (United States)

    Papper, S

    1980-01-01

    Renal failure without apparent cause (the hepatorenal syndrome) may develop in the course of cirrhosis of the liver. While the development of renal failure bears a poor prognosis, spontaneous recovery can occur. The data suggest that for the most part patients die in rather than of renal failure. The latter seems to be only part of a broader more fundamental disturbance. The pathogenesis of HRS is unknown, but the evidence supports an impairment of effective renal perfusion. The two major hypotheses concerning the nature of the impaired perfusion are that it is a physiologic response to alterations in the extrarenal circulation, and that there is an unidentified humoral agent(s) produced by or inadequately inactivated by or bypassing the diseased liver and causing circulatory changes in the kidney as well as in other organs. It is possible that both mechanisms are operative. Treatment is unsatisfactory and emphasis is presently best placed upon searching for more treatable causes of renal functional impairment in individual patients.

  8. Terlipressin for hepatorenal syndrome

    DEFF Research Database (Denmark)

    Gluud, Lise Lotte; Christensen, Kurt; Christensen, Erik

    2012-01-01

    Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal.......Clinical trials suggest that terlipressin improves renal function in hepatorenal syndrome, but the evidence concerning mortality is equivocal....

  9. Chinese restaurant syndrome

    Science.gov (United States)

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  10. Obesity hypoventilation syndrome (OHS)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  11. Hermansky-Pudlak syndrome

    Directory of Open Access Journals (Sweden)

    Preena A

    2017-04-01

    Full Text Available Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea, oculocutaneous albinism and nystagmus.

  12. Marfan syndrome (image)

    Science.gov (United States)

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  13. Acute respiratory distress syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  14. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  15. Guillain-Barre Syndrome

    Science.gov (United States)

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  16. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  17. Polycystic Ovary Syndrome

    Science.gov (United States)

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  18. Hyperimmunoglobulin E syndrome

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001311.htm Hyperimmunoglobulin E syndrome To use the sharing features on this page, please enable JavaScript. Hyperimmunoglobulin E syndrome is a rare, inherited disease. It causes ...

  19. Holmes-Adie Syndrome

    Science.gov (United States)

    ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ... other diseases of the nervous system, such as Sjogren’s syndrome or migraine. It is most often seen in ...

  20. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

    Derksen, R. H. W. M.; de Grootb, Ph. G.

    The association of persistent presence of circulating antiphospholipid antibodies and thromboembolic events, (recurrent) pregnancy loss or both is termed antiphospholipid syndrome. Pregnancies in women with the syndrome should be regarded as at high-risk for complications. Optimal management

  1. Tics and Tourette Syndrome

    Science.gov (United States)

    ... for Nausea and Vomiting Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...

  2. Down Syndrome (For Kids)

    Science.gov (United States)

    ... Changed What's Life Like for Kids With Down Syndrome? Print en español El síndrome de Down You have probably seen people who have Down syndrome. They have certain physical features, such as a ...

  3. Hantavirus Pulmonary Syndrome (HPS)

    Science.gov (United States)

    ... to Yosemite FAQ: Non-U.S. Visitors to Yosemite History of HPS Related Links Prevent Rodent Infestations Cleaning Up After Rodents Diseases From Rodent Hantavirus Pulmonary Syndrome (HPS) Recommend on Facebook Tweet Share Compartir Hantavirus Pulmonary Syndrome (HPS) is ...

  4. Ramsay Hunt syndrome

    Science.gov (United States)

    Hunt syndrome; Herpes zoster oticus; Geniculate ganglion zoster; Geniculate herpes; Herpetic geniculate ganglionitis ... The varicella-zoster virus that causes Ramsay Hunt syndrome is the same virus that causes chickenpox and ...

  5. Moebius Syndrome Foundation

    Science.gov (United States)

    ... craniofacial/neurological disorder. Individuals with Moebius syndrome cannot smile or frown, and do not have lateral eye ... the organization to ensure that they are in line with the mission of the Moebius Syndrome Foundation. ...

  6. Burning Mouth Syndrome

    Science.gov (United States)

    ... Care Home Health Info Health Topics Burning Mouth Burning Mouth Syndrome (BMS) is a painful, complex condition often described ... or other symptoms. Read More Publications Cover image Burning Mouth Syndrome Publication files Download Language English PDF — Number of ...

  7. Neuroleptic Malignant Syndrome

    Science.gov (United States)

    ... such as neuroleptic malignant syndrome. Much of this research focuses on finding ways to prevent and treat the disorder. Show More Show Less Search Disorders SEARCH SEARCH Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Neuroleptic malignant syndrome is ...

  8. Skin Peeling Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma Rajeev

    2000-01-01

    Full Text Available Peeling of the skin is an uncommonly encountered disorder. Occurrence of vesicles and bullae in peeling skin syndrome is very rare. We report a case of idiopathic peeling skin syndrome with vesicular lesions.

  9. [The Capgras syndrome].

    Science.gov (United States)

    Anikina, M A; Levin, O S

    2013-01-01

    The Capgras syndrome is one of delusional-like misidentification syndrome in which a person holds a delusion that one or several his/her friends or relatives have been replaced by an identical-looking impostor. As any other delusional disorder, the Capgras syndrome is characterized by stability despite the indisputable arguments against fault views. Initially, this syndrome was considered as a presentation of schizophrenia but later it has been described in brain organic disorders, primarily in elderly patients with dementia.

  10. The wellness syndrome

    DEFF Research Database (Denmark)

    Mik-Meyer, Nanna

    2015-01-01

    Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.).......Klumme. Wellness er blevet et syndrom, og dets symptomer er angst, selvbebrejdelser og skyldfølelse. Kommentar med udgangspunkt i: Carl Cederström & Andre Spicer, "The Wellness Syndrome" (Polity Books, 2015. 200 p.)....

  11. PRES syndrome

    International Nuclear Information System (INIS)

    Georgiev, R.; Novakova, M.; Balev, B.; Baleva, D.; Nedelchev, K.

    2010-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological entity characterized by headache, confusion, visual disturbances, seizures and posterior transient changes on neuroimaging. PRES has been described in several conditions including hypertensive encephalopathy, preeclampsia, eclampsia, infections, electrolyte imbalance, hypercalcaemia and use of several drugs. It occurs due to elevated blood pressure which exceeds the autoregulatory capacity of brain vasculature. The posterior circulation supplied by vertibro-basilar system has poor sympathetic innervation and, therefore, is frequently involved. The role of neuroimaging is to establish the initial diagnosis and to exclude other causes of neurological symptoms and signs. NCCT is sufficient to make the diagnosis in a proper clinical setting. MRI features are characteristic and has diagnostic and prognostic value. Diffusion weighted imaging (DWI) can differentiate this condition from ischemia/cytotoxic edema. Differential diagnosis of PRES includes PCA territory infarcts, venous thrombosis, demyelinating disorders, vasculitis and encephalitis. The diagnosis has important implications because the reversibility of the clinico-radiological abnormalities is contingent on the prompt control of blood pressure and/or withdrawing of the offending drug. We describe here a case of PRES in a 12 years old girl with acute lymphoblasts leukaemia, treated with cytostatics-vincristine, pharmorubycin and methotrexate. After 39 days from the beginning of the treatment there are good results in the myelogram and the flowcytometric examination, but the patient made two tonic-clonic seizures. CT and MRI were made and signs of leucoencephalopathy were diagnosed. Several control MRI examinations after cessation of the therapy and disappearance of the neurologic symptoms were made. The normal findings and the clinical course were the reasons for the PRES diagnosis

  12. Postthrombotic syndrome.

    Science.gov (United States)

    Pesavento, Raffaele; Bernardi, Enrico; Concolato, Alessia; Dalla Valle, Fabio; Pagnan, Antonio; Prandoni, Paolo

    2006-10-01

    Despite considerable progress in the diagnosis and treatment of deep vein thrombosis (DVT) of the lower extremities, one of every three patients will develop postthrombotic sequelae within 2 years; these sequelae are severe in approximately 20% of cases and produce considerable socioeconomic consequences. Among factors potentially related to the development of the postthrombotic syndrome (PTS) are older age, obesity, insufficient oral anticoagulant therapy, and recurrent ipsilateral thrombosis. Whether the extent and location of the initial thrombosis are associated with the development of PTS is controversial. Based on recent findings, the lack of vein recanalization within the first 6 months appears to be an important predictor of PTS, whereas the development of transpopliteal venous reflux is not. The diagnosis of PTS can be made on clinical grounds for patients with a history of DVT. The combination of a standardized clinical evaluation with the results of compression ultrasonography and Doppler ultrasound helps diagnose or exclude a previous proximal vein thrombosis. According to the results of recent clinical studies, the prompt administration of adequate compression elastic stockings in patients with symptomatic DVT has the potential to reduce the frequency of late PTS development by half. The management of this condition is demanding and often frustrating. However, when carefully supervised and instructed to wear proper elastic stockings, more than 50% of patients will either remain stable or improve during long-term follow-up. Clinical presentation helps predict the prognosis; the outcome of patients who refer with initially severe manifestations is more favorable than that of patients whose symptoms deteriorate progressively over time.

  13. Cardio-renal syndrome

    OpenAIRE

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  14. Facts about Down Syndrome

    Science.gov (United States)

    ... monitor children with Down syndrome for these conditions. Treatments Down syndrome is a lifelong condition. Services early in life ... of these services focus on helping children with Down syndrome develop to their ... therapy, and they are typically offered through early intervention ...

  15. Gorlin-goltz syndrome

    International Nuclear Information System (INIS)

    Ahmed, N.; Salman, M.; Mansoor, M.A.

    2007-01-01

    Multiple jaw cysts are a characteristic manifestation of basal cell nevus (Gorlin) syndrome. Gorlin-Goltz syndrome is characterized by symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. This patient showed recurrent jaw and maxillary cysts, for which he was followed for 2 years. (author)

  16. Sjogren-Larsson Syndrome

    Science.gov (United States)

    ... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

  17. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  18. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    ... Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ... with PCOS? •Glossary What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the ...

  19. Diagnostik af Dravet syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy. We describe the features of two cases with genetically verified SCNA1 mutations. The diagnosis was established rather late in one case. The epilepsies were medically intractable and the symptoms characteristic of Dravet syndrome. The children...

  20. The acute radiation syndrome

    International Nuclear Information System (INIS)

    Souhami Filho, L.

    1985-01-01

    Symptoms and signs from medical aspects resulting from whole body exposure, or in the main part, to ionizing radiation are described. The dose-response relationship is studied and the exposure is divided in three parts: central nervous system syndrome, gastrointestinal syndrome and hematopoietic syndrome. Brief comments about the treatment are reported. (M.A.C.) [pt

  1. DIDMOAD (Wolfram Syndrome

    Directory of Open Access Journals (Sweden)

    Masoud Nashibi

    2016-07-01

    Full Text Available Wolfram syndrome was first described by physician D J Wolfram and Wagener in 1938. This autosomal recessive syndrome is also referred to as DIDMOAD syndrome which stands for Diabetes Insipidus, Insulin Dependent Diabetes Mellitus, Optic Atrophy and Deafness

  2. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  3. Impact of climate, vegetation, soil and crop management variables on multi-year ISBA-A-gs simulations of evapotranspiration over a Mediterranean crop site

    Science.gov (United States)

    Garrigues, S.; Olioso, A.; Carrer, D.; Decharme, B.; Calvet, J.-C.; Martin, E.; Moulin, S.; Marloie, O.

    2015-10-01

    Generic land surface models are generally driven by large-scale data sets to describe the climate, the soil properties, the vegetation dynamic and the cropland management (irrigation). This paper investigates the uncertainties in these drivers and their impacts on the evapotranspiration (ET) simulated from the Interactions between Soil, Biosphere, and Atmosphere (ISBA-A-gs) land surface model over a 12-year Mediterranean crop succession. We evaluate the forcing data sets used in the standard implementation of ISBA over France where the model is driven by the SAFRAN (Système d'Analyse Fournissant des Renseignements Adaptés à la Nivologie) high spatial resolution atmospheric reanalysis, the leaf area index (LAI) time courses derived from the ECOCLIMAP-II land surface parameter database and the soil texture derived from the French soil database. For climate, we focus on the radiations and rainfall variables and we test additional data sets which include the ERA-Interim (ERA-I) low spatial resolution reanalysis, the Global Precipitation Climatology Centre data set (GPCC) and the MeteoSat Second Generation (MSG) satellite estimate of downwelling shortwave radiations. The evaluation of the drivers indicates very low bias in daily downwelling shortwave radiation for ERA-I (2.5 W m-2) compared to the negative biases found for SAFRAN (-10 W m-2) and the MSG satellite (-12 W m-2). Both SAFRAN and ERA-I underestimate downwelling longwave radiations by -12 and -16 W m-2, respectively. The SAFRAN and ERA-I/GPCC rainfall are slightly biased at daily and longer timescales (1 and 0.5 % of the mean rainfall measurement). The SAFRAN rainfall is more precise than the ERA-I/GPCC estimate which shows larger inter-annual variability in yearly rainfall error (up to 100 mm). The ECOCLIMAP-II LAI climatology does not properly resolve Mediterranean crop phenology and underestimates the bare soil period which leads to an overall overestimation of LAI over the crop succession. The

  4. Physiological response of Pichia pastoris GS115 to methanol-induced high level production of the Hepatitis B surface antigen: catabolic adaptation, stress responses, and autophagic processes

    Science.gov (United States)

    2012-01-01

    Background Pichia pastoris is an established eukaryotic host for the production of recombinant proteins. Most often, protein production is under the control of the strong methanol-inducible aox1 promoter. However, detailed information about the physiological alterations in P. pastoris accompanying the shift from growth on glycerol to methanol-induced protein production under industrial relevant conditions is missing. Here, we provide an analysis of the physiological response of P. pastoris GS115 to methanol-induced high-level production of the Hepatitis B virus surface antigen (HBsAg). High product titers and the retention of the protein in the endoplasmic reticulum (ER) are supposedly of major impact on the host physiology. For a more detailed understanding of the cellular response to methanol-induced HBsAg production, the time-dependent changes in the yeast proteome and ultrastructural cell morphology were analyzed during the production process. Results The shift from growth on glycerol to growth and HBsAg production on methanol was accompanied by a drastic change in the yeast proteome. In particular, enzymes from the methanol dissimilation pathway started to dominate the proteome while enzymes from the methanol assimilation pathway, e.g. the transketolase DAS1, increased only moderately. The majority of methanol was metabolized via the energy generating dissimilatory pathway leading to a corresponding increase in mitochondrial size and numbers. The methanol-metabolism related generation of reactive oxygen species induced a pronounced oxidative stress response (e.g. strong increase of the peroxiredoxin PMP20). Moreover, the accumulation of HBsAg in the ER resulted in the induction of the unfolded protein response (e.g. strong increase of the ER-resident disulfide isomerase, PDI) and the ER associated degradation (ERAD) pathway (e.g. increase of two cytosolic chaperones and members of the AAA ATPase superfamily) indicating that potential degradation of HBsAg could

  5. Gorlin-Goltz Syndrome

    Directory of Open Access Journals (Sweden)

    Padma Pandeshwar

    2012-01-01

    Full Text Available The Gorlin-Goltz syndrome (GGS (the nevoid basal cell carcinoma syndrome—NBCCS is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  6. Barth syndrome

    Directory of Open Access Journals (Sweden)

    Clarke Sarah LN

    2013-02-01

    Full Text Available Abstract First described in 1983, Barth syndrome (BTHS is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM, skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA. Fewer than 200 living males are known worldwide, but evidence is accumulating that the disorder is substantially under-diagnosed. Clinical features include variable combinations of the following wide spectrum: dilated cardiomyopathy (DCM, hypertrophic cardiomyopathy (HCM, endocardial fibroelastosis (EFE, left ventricular non-compaction (LVNC, ventricular arrhythmia, sudden cardiac death, prolonged QTc interval, delayed motor milestones, proximal myopathy, lethargy and fatigue, neutropenia (absent to severe; persistent, intermittent or perfectly cyclical, compensatory monocytosis, recurrent bacterial infection, hypoglycaemia, lactic acidosis, growth and pubertal delay, feeding problems, failure to thrive, episodic diarrhoea, characteristic facies, and X-linked family history. Historically regarded as a cardiac disease, BTHS is now considered a multi-system disorder which may be first seen by many different specialists or generalists. Phenotypic breadth and variability present a major challenge to the diagnostician: some children with BTHS have never been neutropenic, whereas others lack increased 3-MGCA and a minority has occult or absent CM. Furthermore, BTHS was first described in 2010 as an unrecognised cause of fetal death. Disabling mutations or deletions of the tafazzin (TAZ gene, located at Xq28, cause the disorder by reducing remodeling of cardiolipin, a principal phospholipid of the inner mitochondrial membrane. A definitive biochemical test, based on detecting abnormal ratios of different cardiolipin species, was first described in 2008. Key areas of differential diagnosis include metabolic and viral cardiomyopathies, mitochondrial diseases, and many causes of neutropenia and

  7. GPR40 (FFAR1) – Combined Gs and Gq signaling in vitro is associated with robust incretin secretagogue action ex vivo and in vivo

    DEFF Research Database (Denmark)

    Pedersen, Maria Hauge; Bentsen, Marie Aare; Husted, Anna S

    2015-01-01

    OBJECTIVES: GPR40 (FFAR1), a clinically proven anti-diabetes target, is a Gq-coupled receptor for long chain fatty acids (LCFA) stimulating insulin secretion directly and mediating a major part of the dietary triglyceride-induced secretion of the incretins GLP-1 and GIP. In phase-II studies the GPR....... Nevertheless, both the Gq-only and the Gq + Gs agonists all docked surprisingly well into the binding site for TAK-875 in the X-ray structure of GPR40. In murine intestinal primary cell-cultures the endogenous LCFAs and the Gq-only agonists stimulated GLP-1 secretion with rather poor efficacy as compared...

  8. Carbon steel protection in G.S. (Girlder sulfide) plants. A protective layer formation in saturated solution of sulfohydric acid in water at pH = 4.43. Pt. 3

    International Nuclear Information System (INIS)

    Bruzzoni, P.; Burkart, A.L.; Garavaglia, R.N.

    1985-04-01

    As complement to the experiences on carbon steel passivation for its use in G.S. (Girlder sulfide) heavy water production plants, the results herein obtained are given, processing the material with a saturated solution at 2.3 MPa of full pressure and 125 temperature degree of H 2 S in NaOH 5 x 10 -3 M, which, at an equilibrium point, the pH is 4.43. The characteristics, the composition and adherence to the layer formed and the corrosion velocity data are analyzed. (Author) [es

  9. Gitelman′s syndrome presenting with hypocalcemic tetany and hypokalemic periodic paralysis

    Directory of Open Access Journals (Sweden)

    Kunal Gandhi

    2016-01-01

    Full Text Available 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.

  10. Effects of serum immunoglobulins from patients with complex regional pain syndrome (CRPS) on depolarisation-induced calcium transients in isolated dorsal root ganglion (DRG) neurons.

    Science.gov (United States)

    Reilly, Joanne M; Dharmalingam, Backialakshmi; Marsh, Stephen J; Thompson, Victoria; Goebel, Andreas; Brown, David A

    2016-03-01

    Complex regional pain syndrome (CRPS) is thought to have an auto-immune component. One such target recently proposed from the effects of auto-immune IgGs on Ca(2+) transients in cardiac myocytes and cell lines is the α1-adrenoceptor. We have tested whether such IgGs exerted comparable effects on nociceptive sensory neurons isolated from rat dorsal root ganglia. Depolarisation-induced [Ca(2+)]i transients were generated by applying 30 mM KCl for 2 min and monitored by Fura-2 fluorescence imaging. No IgGs tested (including 3 from CRPS patients) had any significant effect on these [Ca(2+)]i transients. However, IgG from one CRPS patient consistently and significantly reduced the K(+)-induced response of cells that had been pre-incubated for 24h with a mixture of inflammatory mediators (1 μM histamine, 5-hydroxytryptamine, bradykinin and PGE2). Since this pre-incubation also appeared to induce a comparable inhibitory response to the α1-agonist phenylephrine, this is compatible with the α1-adrenoceptor as a target for CRPS auto-immunity. A mechanism whereby this might enhance pain is suggested. Copyright © 2015. Published by Elsevier Inc.

  11. Abdominal compartment syndrome with acute reperfusion syndrome

    International Nuclear Information System (INIS)

    Maleeva, A.

    2017-01-01

    Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

  12. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  13. Impaired insulin activation and dephosphorylation of glycogen synthase in skeletal muscle of women with polycystic ovary syndrome is reversed by pioglitazone treatment

    DEFF Research Database (Denmark)

    Glintborg, Dorte; Højlund, Kurt; Andersen, Nicoline Resen

    2008-01-01

    CONTEXT: Insulin resistance is a major risk factor for type 2 diabetes in women with polycystic ovary syndrome (PCOS). The molecular mechanisms underlying reduced insulin-mediated glycogen synthesis in skeletal muscle of patients with PCOS have not been established. SUBJECTS AND METHODS: We...... metabolically characterized by euglycemic-hyperinsulinemic clamps and indirect calorimetry. RESULTS: Reduced insulin-mediated glucose disposal (P .... No significant abnormalities in GSK-3alpha or -3beta were found in PCOS subjects. Pioglitazone treatment improved insulin-stimulated glucose metabolism and GS activity in PCOS (all P

  14. Genetics Home Reference: Marfan syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

  15. The impact of patient centered communication in managing Gardner′s syndrome

    Directory of Open Access Journals (Sweden)

    Gayathri Subramanian

    2015-01-01

    Full Text Available Effective patient communication and comprehension are fundamental toward empowering the patient to make optimal health decisions. Barriers in patient health literacy extend beyond cultural and language differences and can significantly impede this process. This case report illustrates a major communication gap that resulted in contradictory perceptions between a treating oncologist and a patient. The patient′s dentist was able to resolve this miscommunication and facilitate the patient′s acceptance of the recommended intravenous chemotherapy for management of malignant desmoid tumors occurring secondary to Gardner′s syndrome (GS. This report also documents classic craniofacial manifestations of GS including multiple unerupted supernumerary teeth, compound odontomas associated with a dentigerous cyst, as well as multiple osteomas in both arches and in the ethmoid and irregularly shaped radioopacities in both arches. In summary, effective patient-centered communication is a prerequisite for the optimal delivery of healthcare. Both interdisciplinary care and one-on-one patient-provider relationship center on coherent bidirectional communication.

  16. Ressenya a Grifoll, Isabel, Julián Acebrón, Flocel Sabaté (eds. (2014: Cartografies de l’ànima. Identitat, memòria i escriptura, Lleida, Pagès Editors, 2014, 248 pàgs. ISBN:978-84-9975-517-5; i Acebrón, Julián, Isabel Grifoll, Flocel Sabaté (eds. (2015: La Construcció d’identitats imaginades. Literatura medieval i ideologia, Lleida, Pagès Editors, 2015, 320 pàgs. ISBN:978-84-9975-704-9

    Directory of Open Access Journals (Sweden)

    Vicent Martines

    2016-12-01

    Full Text Available Review to Grifoll, Isabel, Julián Acebrón, Flocel Sabaté (eds. (2014: Cartografies de l’ànima. Identitat, memòria i escriptura, Lleida, Pagès Editors, 2014, 248 pàgs. ISBN:978-84-9975-517-5; and Acebrón, Julián, Isabel Grifoll, Flocel Sabaté (eds. (2015: La Construcció d’identitats imaginades. Literatura medieval i ideologia, Lleida, Pagès Editors, 2015, 320 pàgs. ISBN:978-84-9975-704-9

  17. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  18. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

    2003-01-01

    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  19. [Menopause and metabolic syndrome].

    Science.gov (United States)

    Meirelles, Ricardo M R

    2014-03-01

    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  20. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  1. Steele Richardson Olszewski syndrome

    Directory of Open Access Journals (Sweden)

    Vijayashree S Gokhale

    2013-01-01

    Full Text Available Parkinson′s disease and its plus syndromes are an important cause of morbidity in the geriatric age group. Its plus syndromes show a myriad of clinical features characterized by progressive symptoms. Here we present a 65-year-old woman with progressive "Parkinsonian-like features," i.e., mask-like face, slowness of all movements and tendency to fall, and difficulty in eye movements, leading to the diagnosis of Steele Richardson Olszewski Syndrome or progressive supranuclear palsy.

  2. Metabolic syndrome and menopause

    OpenAIRE

    Jouyandeh, Zahra; Nayebzadeh, Farnaz; Qorbani, Mostafa; Asadi, Mojgan

    2013-01-01

    Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3) criteria t...

  3. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery, i...... on the coronary vessels, with cardiac tamponade and chronic pericardial exudate. In the lighter cases, PCIS may be treated with NSAID and, in the more severe cases, with systemic glucocorticoid which has a prompt effect....

  4. A seizuring alagille syndrome

    Directory of Open Access Journals (Sweden)

    Jomon Mathew John

    2017-01-01

    Full Text Available Alagille syndrome is a rare autosomal dominant inherited disorder with incidence of one in 100,000 live births. This syndrome with seizure as a presentation has been rarely reported in Indian studies. We present a 3-month-old infant who presented to us with seizures was found to have a dysmorphic face, jaundice, hepatomegaly, and soft systolic murmur. Infant was stabilized and remained seizure free. A detailed clinical evaluation of a common presentation may reveal a rare syndrome.

  5. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  6. What Is Antiphospholipid Antibody Syndrome?

    Science.gov (United States)

    ... Back To Health Topics / Antiphospholipid Antibody Syndrome Antiphospholipid Antibody Syndrome Also known as What Is Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders ...

  7. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

    ... Home / Respiratory Distress Syndrome Respiratory Distress Syndrome Also known as What Is Respiratory ... This condition is called apnea (AP-ne-ah). Respiratory Distress Syndrome Complications Depending on the severity of ...

  8. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  9. Guide to Understanding Pfeiffer Syndrome

    Science.gov (United States)

    ... syndrome occurs more often in children with older fathers. if I have pfeiffer syndrome what are the odds of passing it to my children? p feiffer syndrome is a rare, autosomal dominant disorder, meaning it requires only one parent to ...

  10. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  11. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  12. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Usher syndrome Usher syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Usher syndrome is a condition characterized by partial or total ...

  13. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  14. Lesch-Nyhan Syndrome

    Science.gov (United States)

    ... National Organization for Rare Disorders (NORD) Purine Research Society See all related organizations Publications Order NINDS Publications Definition Lesch-Nyhan syndrome (LNS) is a rare, inherited ...

  15. SNEDDON’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Valentin Valtchev

    2008-10-01

    Full Text Available Sneddon’s syndrome is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The incidence of Sneddon syndrome is 4/1000 000. We present 42-year-old woman with livedo reticularis, recurrence ischaemic cerebrovascular accidents, two repetitive miscarriages and positive anti-2GPi antibodies. Skin biopsy specimens reveal inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis. The diagnosis Sneddon syndrome is confirmed by skin biopsy, and MR evidence. We suggest that anti-2GPi antibodies may be pathophysiologically related to the clinical manifestation observed in some patients with Sneddon syndrome.

  16. Fragile X syndrome

    Science.gov (United States)

    ... problems, or intellectual disability may not be present. Symptoms Behavior problems associated with fragile X syndrome include: Autism spectrum disorder Delay in crawling, walking, or twisting Hand flapping ...

  17. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  18. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  19. Central Pain Syndrome

    Science.gov (United States)

    ... such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain. View Full Treatment Information Definition Central pain syndrome is a neurological condition caused ...

  20. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.

    2011-01-01

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)