Beta-Glucosidase Activity as a Diagnostic Index of Gaucher's Disease

Gaucher's disease is a disorder characterised by accumulation of glucocerebroside in the cells of the reticuloendothelial system due to the deficit of β-glucosidase. The lack of one iso-enzyme of β-glucosidase can be detected in the Iymphocytes of the homozygotes and a severe deficit is found in the heterozygotes of the disease. We have determined the enzymatic activity in normal and homozygous subjects with Gaucher's disease and investigated relatives and descendants of one of the homozygous patients, among whom 3 carriers were detected.S. Afr. Med. J., 48, 1150 (1974)

Beta-glucosidase activity as a diagnostic index of Gaucher's disease

Gaucher's disease is a disorder characterised by accumulation of glucocerebroside in the cells of the reticuloendothelial system due to the deficit of β-glucosidase. The lack of one iso-enzyme of β-glucosidase can be detected in the Iymphocytes of the homozygotes and a severe deficit is found in the heterozygotes of the disease. We have determined the enzymatic activity in normal and homozygous subjects with Gaucher's disease and investigated relatives and descendants of one of the homozygous patients, among whom 3 carriers were detected.S. Afr. Med. J., 48, 1150 (1974)

Storsjöstråket : a design proposal for where lake and land meet

Det här arbetet är sprunget ur den allt vanligare företeelsen att gamla industriområden förändras till generiska platser till följd av förtätning. Områden som dessa besitter ofta platsspecifika egenskaper som kan ligga till grund för unika livsmiljöer. Mellan järnvägen och Storsjön i Östersund sträcker sig Storsjöstråket. Här pågår just nu ett typiskt förtätningsprojekt med bostäder, kontor och verksamheter. Som i många andra projekt strävar man även här efter att ha en hållbar profil. Längs Storsjöstråket planeras dessutom etablering av ett nytt vattenreningsverk, vars omgivning kräver noggrann utformning för att få en mänsklig skala. Målet med detta arbete har varit att identifiera Storsjöstråkets platsspecifika egenskaper och låta dessa stå som grund för ett gestaltningsförslag. Ambitionen är att omvandlingen av stråket ska möta kommande miljömässiga påfrestningar, samt det nya flödet av människor. Syftet är att ta fram ett förslag till gestaltning där ledord som ekologisk och social hållbarhet styr utformningen av platsen. Med hjälp av gestaltningsförslaget besvaras frågan om hur mål 11 och 15 ur Agenda 2030 kan vara med och styra utformningen av urbana miljöer. Gestaltningen materialiserar även Storsjöstråkets platsspecifika egenskaper. Under processen vägs ekologiska och sociala intressen mot varandra. I designförslaget ligger fokus på att restaurera Storsjöns kantzon, samtidigt som den tillgängliggörs för alla. För att konkretisera ekologisk och social hållbarhet verkar de globala målen 11 och 15 vägledande under arbetet. Inför gestaltningsarbetet görs en övergriplig litteraturstudie om hållbar utveckling och sjöar. Dessutom genomförs en dokumentstudie om Östersund. Slutligen konstateras att mer kunskap om restaurering av vattenlandskap behövs. Framförallt i urbana miljöer, gärna i de norra delarna av Sverige.As a result of densification, more and more industrial areas are transformed into generic places with little consideration of place-specific attributes. Areas such as these often possess site-specific characteristics that can form the basis for unique living environments. The promenade Storsjöstråket in Östersund is located between the railway and the Big Lake. This area is facing a typical densification project, with new hou�sing, offices and businesses. The aim is to develop the area in a sustainable way. Along Storsjöstråket, there are also plans to build a water treatment plant. The surroundings of which require careful design to keep a human scale. The aim of this work has been to identify site-specific properties of Storsjöstråket. These are the basis for a design proposal. The new design should meet future environmental challenges, as well as creating space for the new flow of people. The purpose is to create a proposal where keywords such as ecological and social sustainability guide the design. As a way to concretize ecological and social sustainability, the global goals 11 and 15 act as guidelines during the work. A literature study was made on sustainable development and lakes. Further, a document study was made on general information of Östersund. The design proposal answers the question of how the goals 11 and 15 can guide the design of urban environments. The design also materializes Storsjöstrå�ket’s site-specific properties. During the process ecological and social interests balance each other. The design proposal focuses on restoring Storsjön’s seashore, while at the same time making it accessible for everyone to use. Lastly, it is suggested that more knowledge about the restoration of water lands�capes is needed. Especially in urban environments, preferably in the northern parts of Sweden

Platsens själ

Syftet med denna uppsats är att få en större förståelse för begreppet genius loci, platsens själ. Tanken är att, genom teoretiska texter om platsbegreppet och kvalitativa intervjuer med landskapsarkitekter och arkitekter, se om det finns likheter mellan deras praktik och tankegodset bakom genius loci. Med denna utgångspunkt diskuteras frågor som: vad är plats och vad innebär en plats unika förutsättningar? Vad är motsatsen till en plats? Hur påverkar mänsklig aktivitet en plats identitet? Hur kan en plats genius bli synlig och hur kan landskapsarkitekten arbeta för att bevara genius loci idag? Uppsatsens teoretiska perspektiv utgår till stor del från Christian Norberg-Schulz platsfenomenologi. Jag har haft stor hjälp av Jan Bengtssons tolkningar av fenomenet plats i min analys av begreppet. För att komma närmare ett svar på hur en motsats till plats kan te sig har jag studerat bland annat Rem Koolhaas och Marc Augés idéer och tankar. För att konkretisera uppsatsens syfte har intervjuer gjorts med landskapsarkitekter och arkitekter för att se om det är aktuellt i dagens praktik. Det är dessa tre delar, en förståelse för genius loci, vad en motsats kan vara och landskapsarkitektens praktik som i stora drag utgör uppsatsens delar. Uppsatsen avslutas med en reflekterande diskussion. Intervjuerna visar att även om genius loci, med allt vad det innebär, inte alltid uttalat används i landskapsarkitektens arbete, sker ofta betraktandet av en plats själ nästan omedvetet. Landskapsarkitekten blir genom studier och arbete skicklig på att förstå en plats förutsättningar, vilket kan ses som ett sätt att använda sig av begreppet genius loci.The purpose of this essay has been to explore the relationship between landscape architecture and the roman expression genius loci. Above all to determine if ”a place soul” is something architects consider in their practice today. Furthermore the purpose has been to oppose what an opposite to genius loci, or place, could be. In the essay, questions like the following are discussed. What is place and what does the unique conditions for a place mean? What is the opposite of place? What kind of impact has human actions for the identity of place? How can a genius of place be uncovered and what is the responsibility of the landscape architect? The theoretical perspective largely proceeds from Christian Norberg-Schulz phenomenology of place. I owe a big thanks to the interpretation of the subject made by Jan Bengtsson. He made my reading a lot easier and interesting. To come closer to an answer of what a place is not I have studied Rem Koolhaas and Marc Augé among others. To concretize the purpose of the essay I’ve made interviews with landscape architects and architects, with an aim to see if there is something they think of today. These three parts broadly constitute the essay. Eventually the whole essay will be completed with a discussion. In my essay, I found that even if the concept of genius loci might not be present in todays practice, the landscape architect often instinctively notic

Conservation wors of the Gothenburg City Hall, Sweden

[EN] Gothenburg Courthouse has been given new life. The exterior and the interior has both been renovated and taken, as it were, into custody. It has been adapted to the needs of a modern organization. That has been possible because of Gunnar Asplund’s foresight: the plans were based on openness and transparency with circulation at the center. That description could have been taken directly from a modern office concept developed today for the office of the future. There is also the additional factor that the most important and most central aspect of the building is its origins in the deeply human – and that makes it a timeless place to be and to work even today[ES] Al ayuntamiento de Gothenburg se le ha dado una nueva vida. Tanto el exterior como el interior se han restaurado y conservado siguiendo su estado inicial. La organización del edificio se ha adaptado a las nuevas necesidades, gracias a la previsión de Gunnar Asplund de espacios abiertos y transparentes, con una circulación central. Esta descripción podríamos obtenerla del concepto de oficina moderna, que se desarrolla hoy en día para la oficina del futuro. Además el factor principal y más importante es su origen profundamente humano, que lo convierte en un espacio atemporal para trabajar incluso hoy en día.Nädele, M.; Losman, C. (2015). La restauración del ayuntamiento de Gotemburgo, Suecia. Loggia, Arquitectura & Restauración. (28):58-77. doi:10.4995/loggia.2015.3998SWORD58772

Epichromatin And Chromomeres: A ‘Fuzzy’ Perspective

‘Epichromatin’, the surface of chromatin beneath the interphase nuclear envelope (NE) or at the surface of mitotic chromosomes, was discovered by immunostaining with a specific bivalent mouse monoclonal anti-nucleosome antibody (mAb PL2-6). ‘Chromomeres’, punctate chromatin particles approximately 200–300 nm in diameter, identified throughout the interphase chromatin and along mitotic chromosomes, were observed by immunostaining with the monovalent papain-derived Fab fragments of bivalent PL2-6. The specific target for PL2-6 appears to include the nucleosome acidic patch. Thus, within the epichromatin and chromomeric regions, this epitope is ‘exposed’. Considering that histones possess unstructured ‘tails’ (i.e. intrinsically disordered peptide regions, IDPR), our perception of these chromatin regions becomes more ‘fuzzy’ (less defined). We suggest that epichromatin cationic tails facilitate interactions with anionic components of NE membranes. We also suggest that the unstructured histone tails (especially, histone H1 tails), with their presumed promiscuous binding, establish multivalent binding that stabilizes each chromomere as a unit of chromatin higher order structure. We propose an ‘unstructured stability’ hypothesis, which postulates that the stability of epichromatin and chromomeres (as well as other nuclear chromatin structures) is a consequence of the collective contributions of numerous weak histone IDPR binding interactions arising from the multivalent nucleosome, analogous to antibody avidity

Real-Time Identification of Serious Infection in Geriatric Patients Using Clinical Information System Surveillance

To develop and characterize an automated syndromic surveillance mechanism for early identification of older emergency department (ED) patients with possible life-threatening infection. DESIGN : Prospective, consecutive-enrollment, single-site observational study. SETTING : A large university medical center with an annual ED census of 75,273. PARTICIPANTS : Patients aged 70 and older admitted to the ED and having two or more systemic inflammatory response syndrome (SIRS) criteria during their ED stay. MEASUREMENTS : A search algorithm was developed to screen the census of the ED through its clinical information system. A study coordinator confirmed all patients electronically identified as having a probable infectious explanation for their visit. RESULTS : Infection accounted for 28% of ED and 34% of final hospital diagnoses. Identification using the software tool alone carried a 1.63 relative risk of infection (95% confidence interval CI=1.09–2.44) compared with other ED patients sufficiently ill to require admission. Follow-up confirmation by a study coordinator increased the risk to 3.06 (95% CI=2.11–4.44). The sensitivity of the strategy overall was modest (14%), but patients identified were likely to have an infectious diagnosis (specificity=98%). The most common SIRS criterion triggering the electronic notification was the combination of tachycardia and tachypnea. CONCLUSION : A simple clinical informatics algorithm can detect infection in elderly patients in real time with high specificity. The utility of this tool for research and clinical care may be substantial.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/66036/1/j.1532-5415.2008.02094.x.pd

Loss of ATRX and DAXX expression identifies poor prognosis for smooth muscle tumours of uncertain malignant potential and early stage uterine leiomyosarcoma

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Transformation by the R Enantiomer of 2-Hydroxyglutarate Linked to EglN Activation

The identification of succinate dehydrogenase (SDH), fumarate hydratase (FH), and isocitrate dehydrogenase (IDH) mutations in human cancers has rekindled the idea that altered cellular metabolism can transform cells. Inactivating SDH and FH mutations cause the accumulation of succinate and fumarate, respectively, which can inhibit 2-oxoglutarate (2-OG)-dependent enzymes, including the EglN prolyl 4-hydroxylases that mark the HIF transcription factor for polyubiquitylation and proteasomal degradation 1. Inappropriate HIF activation is suspected of contributing to the pathogenesis of SDH-defective and FH-defective tumors but can suppress tumor growth in some other contexts. IDH1 and IDH2, which catalyze the interconversion of isocitrate and 2-OG, are frequently mutated in human brain tumors and leukemias. The resulting mutants display the neomorphic ability to convert 2-OG to the R-enantiomer of 2-hydroxyglutarate (R-2HG) 2, 3. Here we show that R-2HG, but not S-2HG, stimulates EglN activity leading to diminished HIF levels, which enhances the proliferation and soft agar growth of human astrocytes