Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

PURPOSE: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. To define the phenotype associated with a novel inherited disorder of cytosolic endoplasmic reticulum-associated degradation pathway dysfunction, we studied a series of eight patients with deficiency of N-glycanase 1. METHODS: Whole-genome, whole-exome, or standard Sanger sequencing techniques were employed. Retrospective chart reviews were performed in order to obtain clinical data. RESULTS: All patients had global developmental delay, a movement disorder, and hypotonia. Other common findings included hypolacrima or alacrima (7/8), elevated liver transaminases (6/7), microcephaly (6/8), diminished reflexes (6/8), hepatocyte cytoplasmic storage material or vacuolization (5/6), and seizures (4/8). The nonsense mutation c.1201A>T (p.R401X) was the most common deleterious allele. CONCLUSION: NGLY1 deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum-associated degradation pathway associated with neurological dysfunction, abnormal tear production, and liver disease. The majority of patients detected to date carry a specific nonsense mutation that appears to be associated with severe disease. The phenotypic spectrum is likely to enlarge as cases with a broader range of mutations are detected.

Livre des Morts de Nésyménou. Egyptien 123

Fragment 3 :Col. 1 + vignette (très fragmentaires) : ?Col. 2 + vignette : chapitre 86 (formule pour prendre l'aspect d'une hirondelle). La vignette contient une hirondelle sur une butte.Col. 3 + vignette : chapitre 87 (formule pour prendre l'aspect d'un serpent-sata). La vignette montre un serpent à tête humaine. Col. 4 + vignette : chapitre 88 (formule pour faire une transformation en crocodile Sobek). La vignette montre une crocodile momiforme.Col. 5 + vignette : chapitre 89 (formule pour permettre que la ba atteigne son cadavre dans la nécropole). La vignette montre l'oiseau-ba volant au-dessus du cadavre allongé sur le lit funéraire.Col. 6 + vignette (fragmentaires) : chapitre 90 (?). La vignette montre le défunt debout les bras en avant.Fragment 2 :Col. 1 + vignette (fragmentaires) : ? Seul un morceau de la vignette est conservé où l'on voit une divinité debout.Col. 2 + vignette : chapitre 91 (formule pour ne pas retenir le ba du défunt dans la nécropole). La vignette montre le défunt debout devant son oiseau-ba.Col. 3 + vignette : chapitre 92 (formule pour ouvrir la tombe pour le ba et pour l'ombre du défunt pour sa sortie pendant le jour). La vignette représente le défunt devant une chapelle où l'on voit l'oiseau-ba.Col. 4 + vignette : chapitre 93 (formule pour ne pas permettre que le défunt ne traverse vers l'Orient dans la nécropole). La vignette représente une divinité assise sur une barque avec le signe de l'Orient.Col. 5 + vignette (voir cadre suivant) : début du chapitre 98 (formule pour aller chercher le bac dans le ciel). La vignette montre la proue de la barque.Fragment 1 (prend place au sein des fragments du cadre suivant Egyptien 122) :Col. 1 + vignette : chapitre 102 (formule pour descendre dans la barque). La vignette représente Rê assis sur sa barque.Col. 2 + vignette (fragmentaires) : ? La vignette laisse deviner une barque.

Livre des Morts de Djéhoutyirydès. Egyptien 133

Colonne 1 : trois vignettes sur trois registres. Sur la vignette supérieure, on voit le défunt en adoration devant Khépri, forme du dieu solaire, qui se trouve sur la barque solaire. La vignette du milieu montre le défunt en adoration devant Osiris assis sur son trône et assisté de Isis. La dernière vignette montre le défunt en adoration devant deux divinités assises, qui symbolisent l'Ennéade.Col. 2, x+1-11 et vignette : chapitre 111 (=108) avec titre en lacune ("Formule pour connaître les âmes de l'Occident"). La vignette montre le défunt en adoration devant deux divinité à tête de faucon.Col. 2, x+12-20 : chapitre 114 avec titre rubrique : "Formule pour connaître les âmes d'Hermopolis". La vignette montre le défunt devant Thot et une table d'offrandes.Col. 3, 1-10 et vignette : chapitre 117 avec titre rubriqué : "Formule (pour s'engager dans les chemins de Rosetchaou)". La vignette montre le défunt s'inclinant, le dos tourné vers une butte. Col. 3, 11-19 et vignette : chapitre 118 avec titre rubriqué : "Formule pour atteindre Rosetchaou". La vignette montre le défunt s'inclinant.Col. 4, 1-12 et vignette : chapitre 119 avec titre rubriqué : "Formule pour sortir de (Rosetchaou)". La vignette montre le défunt debout tourné vers la droite.Col. 4, 13-21 et vignette : chapitre 120 (=12) avec titre rubriqué : "Formule pour entrer et sortir de Rosetchaou". La vignette montre le défunt face à lui-même.Col. 5, 1-30 : début du chapitre 125, déclaration d'innocence.

Canadian Shredded Wheat Company Fonds

In 1893 Attorney Henry Drushel Perky and William H. Ford invented a machine for the preparation of cereals for food. Perky soon realized that the actual cereal biscuits were more popular than the machines and he opened Shredded Wheat plants in Massachusetts and Niagara Falls, New York. In 1904, the Niagara Falls, Canada plant was opened. These factories also served as tourist attractions. In 1907, one hundred thousand people visited the plants on both sides of the border. In 1928, the company was sold to The National Biscuit Company and the product name changed to Nabisco Shredded Wheat. The name of the plant was changed to Nabisco Foods in 1956 to reflect the variety of foods that were being produced at that time. In 1985, Nabisco was purchased by J.R. Reynolds thus forming RJR Nabisco. In 1994, RJR sold its breakfast cereal business to Kraft Foods and the international licenses to General Mills. Shredded Wheat is now integrated into the Post Foods portfolio. with information from: Niagara Falls Canada a History by The Kiwanis Club of Stamford, Ontario Inc. and Business Source Complete

Image of Niagara Falls n.d.

In 1818 Parkhurst Whitney built stairs leading to the river’s edge at Prospect Point. In 1825 Porter Brother replaced that staircase with a spiral one. In 1844 Whitney started a water powered incline railway there although the staircase was also used until 1890. In 1906 the water wheel was replaced by an electric power plant. There were lower buildings which included Shadow of the Rock which was a concession stand and also rented raincoats to the tourists. This was destroyed by fire and ice in 1892 and replaced by a chalet-style building in 1894-95. On July 6th, 1907 a cable on the incline railway broke. One person was killed and several sustained injuries. An elevator was constructed and it opened in January of 1910. It was condemned in 1954 when water entered the shaft, this was at the time of the collapse of Prospect Point which occurred at 4:50 pm. on July 28, 1954. This photograph was taken prior to 1954. Today the New York State Observation Tower stands at Prospect Point and The Maid of the Mist boat ride is available from the base of the tower. with information from: Niagara Falls Canada: a History by the Kiwanis Club of Stamford, Ontario

Niveles de actividad física, condición física y tiempo en pantallas en escolares de Bogotá, Colombia: Estudio FUPRECOL

Examina la relación entre los niveles de actividad física (AF) de forma objetiva, la condición física (CF) y el tiempo de exposición a pantallas en niños y adolescentes de Bogotá, Colombia.

The Extras Regina, 2008

Project includes: a large scale live performance and resulting performance video, at Curtain Razors, Regina Queen’s Square, Regina, 2008 Live Performance, 45 mins, incl. 1 actor, 23 extras, 2 live cameras, live video and sound mixing, stage set, video projection. Video 45 mins Video Trailer 7 mins The Extras is a video performance referencing the form of a large live film shoot. The Extras contextualises contemporary Westerns genres within an experimental live tableau. The live performance and resulting 45 mins video make reference 19th century Western Author German Karl May, the tradition of Eastern European Western, (Red Western), Uranium exploitation and entrepreneurial cultures in the Canadian Prairies. Funded by the Canada Council for the Arts, Saskatchewan Arts Board and Curtain Razors, the Extras Regina was staged and performed at Central Plaza in Regina, with a crew of 23 extras, 2 live cameras, live video and sound mixing ad video projection. It involved research in Saskatchewan film and photographic archives. The performance was edited live and mixed with video material which was shot on location, with a further group of extras at historical historical ‘Western’ locations, including Fort Qu' Appelle, 
Castle Butte and Big Muddy. It also involved a collaboration with a local theatre production company, which enacted a dramatised historical incident.

Mapeamento de magnetização aparente usando regularização entrópica

Apresentamos um novo método de mapeamento de magnetização aparente no plano horizontal que combina a minimização da entropia de primeira ordem com a maximização da entropia de ordem zero dos contrastes de magnetização estimados. O modelo interpretativo é uma malha de prismas verticais justapostos ao longo de ambas as direções horizontais. Presumimos que o topo e a base das fontes magnéticas são planos e horizontais e estimamos os contrastes de magnetização dos prismas. A minimização da entropia de primeira ordem favorece soluções de bordas abruptas e a maximização da entropia de ordem zero evita a tendência de a fonte estimada ser um único prisma. Desta forma, uma combinação judiciosa de ambos os vínculos pode levar a soluções caracterizadas por regiões de contraste de magnetização virtualmente constantes separadas por descontinuidades abruptas. Aplicamos este método a dados sintéticos produzidos por intrusões simuladas em sedimentos e que apresentam topo e base planos e horizontais. Comparando nossos resultados com aqueles obtidos pelo vínculo da suavidade, mostramos que ambos os métodos produzem uma boa e equivalente localização do centro das fontes. Todavia, a regularização entrópica delineia as bordas do corpo com maior detalhe. Ambos os vínculos (suavidade e regularização entrópica) foram aplicados a uma anomalia real sobre um escarnito magnético em Butte Valley, Nevada, Estados Unidos. A regularização entrópica produziu uma estimativa da distribuição de magnetização com bordas mais abruptas, menor volume e maiores valores de magnetização aparente comparados àqueles produzidos pelo vinculo da suavidade.

Forty-eighth Annual Report of the Agricultural Experiment Station of Nebraska, February 1, 1935

This report differs from previous reports in two respects: it covers experimental work up to January 1, 1935, and it includes brief abstracts of publications since the last report. Previously most of the report dealt with work done before the end of the fiscal year; that is, work done between June 30 and January 1 was not reported until over a year later, for the most part. The present report corrects that defect, and in addition the abstracts of publications will make the report useful as a reference guide to published matter. The projects are discussed under subject headings and in addition to the abstracts, brief reports of progress in projects under way are included. Complete data for these projects are not included; rather an attempt has been made to show how far the work has gone and to indicate some of the directions or trends of the work. The drouth of the past summer reduced yields severely. As a result the collection of significant data on yields was almost impossible. A few of the Experiment Station workers have ben loaned to federal projects. Despite these handicaps many projects have been advanced and many have been completed.

Forty-Fifth Annual Report of the Agricultural Experiment Station of Nebraska, February 1, 1932

This report covers the investigations, expenditures, and publications of the Nebraska Agricultural Experiment Station for the fiscal year June 30, 1931. During the year 68 projects have been under investigation at the main station. These have covered a wide range of subjects. At the various substations the work is planned to meet the needs of the different regions. The funds for carrying on the work of the stations are derived from federal and state sources. The work is carried on in definite projects according to the supporting fund. Satisfactory progress was made on the research program. During the year eight projects were completed and seven new ones added. The selection of new projects is on the basis of most urgent need, together with the ability of the Experiment Station to carry the project. The financial depression in which agriculture still finds itself has increased rather than decreased the demand upon the Experiment Station and the College for new and definite information. This demand has been taken care of insofar as possible. During the year covered by this report eleven bulletins, nine research bulletins, and one circular have been published by the Experiment Station. In addition 22 technical papers have been prepared by members of the staff and printed in various technical and professional journals.

Reflection, refraction, and rejection : copper smelting heritage and the execution of environmental policy

This dissertation examines the global technological and environmental history of copper smelting and the conflict that developed between historic preservation and environmental remediation at major copper smelting sites in the United States after their productive periods ended. Part I of the dissertation is a synthetic overview of the history of copper smelting and its environmental impact. After reviewing the basic metallurgy of copper ores, the dissertation contains successive chapters on the history of copper smelting to 1640, culminating in the so-called German, or Continental, processing system; on the emergence of the rival Welsh system during the British industrial revolution; and on the growth of American dominance in copper production the late 19th and early 20th centuries. The latter chapter focuses, in particular, on three of the most important early American copper districts: Michigan’s Keweenaw Peninsula, Tennessee’s Copper Basin, and Butte-Anaconda, Montana. As these three districts went into decline and ultimately out of production, they left a rich industrial heritage and significant waste and pollution problems generated by increasingly more sophisticated technologies capable of commercially processing steadily growing volumes of decreasingly rich ores. Part II of the dissertation looks at the conflict between historic preservation and environmental remediation that emerged locally and nationally in copper districts as they went into decline and eventually ceased production. Locally, former copper mining communities often split between those who wished to commemorate a region’s past importance and develop heritage tourism, and local developers who wished to clear up and clean out old industrial sites for other purposes. Nationally, Congress passed laws in the 1960s and 1970s mandating the preservation of historical resources (National Historic Preservation Act) and laws mandating the cleanup of contaminated landscapes (CERCLA, or Superfund), objectives sometimes in conflict – especially in the case of copper smelting sites. The dissertation devotes individual chapters to the conflicts that developed between environmental remediation, particularly involving the Environmental Protection Agency and the heritage movement in the Tennessee, Montana, and Michigan copper districts. A concluding chapter provides a broad model to illustrate the relationship between industrial decline, federal environmental remediation activities, and the growth of heritage consciousness in former copper mining and smelting areas, analyzes why the outcome varied in the three areas, and suggests methods for dealing with heritage-remediation issues to minimize conflict and maximize heritage preservation.

The Chromite Deposits of Stillwater and Sweetgrass Counties, Montana

In writing this report, two objects were kept in mind, (1) to explain, if possible, the origin of the chromite deposits found in Sweetgrass and Stillwater Counties, and (2) to bring up to date all information on these deposits which had thus far been available. The work done consisted of study of the rocks and ores of the area under the microscope, both as thin sections and as polished sections, practically all of which was done at the Montana State School of Mines, during the school year of 1928 - 1929. The rock specimens and much information as to their locations and probable compositions were obtained from Mr. P. F. Minister, of the East Butte Copper Company. United States Geological Survey Bulletin 725-A, Deposits of Chromite in California, Oregon, Washington, and Montana, and the unpublished report on the Chromite deposits of the Boulder River, prepared by Prof. C. H. Clapp of the University of Montana, were frequently referred to and considerable material was drawn from them. The map of the Boulder River area is from Clapp's report.

Some Notes on the Composition of "Copper Pitch"

A supply of so-called "copper pitch" ore was received by the Montana Bureau of Mines and Geology in response to a request by them from a resident of Kalispell, who had previously sent a specimen to the Bureau for a mineralogical analysis. Since this material was little known and had apparently received but little study under a reflec­ting microscope, it was thought that such a study might throw some light on the mineralogical and chemical composition of the material.

Investigations Concerning Bentonite Deposits Near Ramsay, Montana

The purpose of Part I of this report is to determine the origin of the bentonite deposits, also to locate them with reference to section corners in the vicinity and to determine their extent. The field work for this report was done in the fall of 1933 and during the spring of 1934. The roads, geologic contacts, and culture in general were mapped with the use of an open sight alidade and plane table. Distances were determined on the roads by the speedometer on the automo­bile; the detailed survey in the immediate vicinity of the deposits was done with use of the Brunton compass and pac­ing. The purpose of Part II in this report is to determine if the bentonite deposits immediately west of Butte, Montana are of com­mercial importance and also to determine the use to which they are best suited.

Auriferous Tertiary Gravels Near Rocker, in Silver Bow County, Montana

Between the villages of Rocker and Silver Bow, in south­western Montana, are found an interesting group of placers. Gold occurs in Tertiary gravel beds that are interstratified with beds of rhyolitic volcanic ash. With the aid of a plane table and open-sight alidade, a small portion of the lake-bed area near Rocker was mapped; all distances were paced, but numerous checks assure a fairly accurate map.