iceland glacier recession: Topics by WorldWideScience.org

Changing Homeland Security: In 2010, Was Homeland ...

In this article, the isotope geochemical study for Iceland is reviewed. Iceland is geologically unique because it is a subaerial exposure of Mid-Atlantic Ridge, which is caused by the interaction between the ridge and the Icelandic hot spot. To investigate what is happening beneath Iceland, many geochemical studies have been done. The geochemical studies using conventional Sr, Nd, Pb, He and O isotope tracers revealed the heterogeneity not only of the oceanic mantle, but also of the Icelandic hot spot mantle itself. Furthermore, the oxygen isotope studies revealed the reworking of the Icelandic crust which is altered by meteoritic water. The characterization of the Icelandic hot spot from the isotope geochemistry is very important in testing the hypothesis of the mantle-crust recycling. In near future, new tracers such as Li, B or Ce will be ...

1995-11-05

Natural climate variability as indicated by glaciers and implications for climate change: a modeling study

... Deepwater Horizon leak in the Gulf of Mexico, the Haitian earthquake and subsequent response, release of information by WikiLeaks, the Icelandic ...

2011-02-01

Evidence of Segregated Spawning in a Single Marine Fish Stock: Sympatric Divergence of Ecotypes in Icelandic Cod?

Glacier fluctuations exclusively due to internal variations in the climate system are simulated using downscaled integrations of the ECHAM4/OPYC coupled general circulation model (GCM). A process-based modeling approach using a mass balance model of intermediate complexity and a dynamic ice flow model considering simple shearing flow and sliding are applied. Multi-millennia records of glacier length fluctuations for Nigardsbreen (Norway) and Rhonegletscher (Switzerland) are simulated using auto-regressive processes determined by statistically downscaled GCM experiments. Return periods and probabilities of specific glacier length changes using GCM integrations excluding external forcings such as solar irradiation changes, volcanic or anthropogenic effects are analyzed and compared to historical glacier length records. Preindustrial fluctuations of the glaciers as far as observed or ...

2001-08-01

Glacier changes in the Siberian Altai Mountains, Ob river basin (1952-2006) estimated with high resolution imagery

There is increasing recognition of intraspecific diversity and population structure within marine fish species, yet there is little direct evidence of the isolating mechanisms that maintain it or documentation...Full Text Available

Glacier changes in the Siberian Altai Mountains, Ob river basin (1952-2006) estimated with high resolution imagery

The Siberian Altai covers about 70% of the area of all south Siberian glaciers, which provide fresh water to the upper tributaries of the Ob and Yenisey rivers. The observed air temperature has increased by 1.2 deg. C over northern Eurasia during the last 120 years, affecting the degradation of the Siberian Altai glaciers. In this study, we estimated glacier area changes in the Aktru River basin (44.8 km{sup 2}), located in the central Altai mountains. We used the 1952, 1966, 1975 and 2006 remote sensed images with 0.6-3.0 m spatial resolution (aerial photographs, Corona and PRISM satellite images) and differential GPS (DGPS) data. From 1952 to 2006, the total glacier area in the Aktru basin shrank by 7.2% (1.2 km{sup 2}). During the last three decades, the rate of glacier area loss increased by a factor of 1.8, thus resembling trends in other mountain systems of Eurasia (Alps, Tien ...

2007-10-15

Detection and Isolation of Ultrasmall Microorganisms from a 120,000-Year-Old Greenland Glacier Ice Core

The Siberian Altai covers about 70% of the area of all south Siberian glaciers, which provide fresh water to the upper tributaries of the Ob and Yenisey rivers. The observed air temperature has increased by 1.2 deg. C over northern Eurasia during the last 120 years, affecting the degradation of the Siberian Altai glaciers. In this study, we estimated glacier area changes in the Aktru River basin (44.8 km"2), located in the central Altai mountains. We used the 1952, 1966, 1975 and 2006 remote sensed images with 0.6-3.0 m spatial resolution (aerial photographs, Corona and PRISM satellite images) and differential GPS (DGPS) data. From 1952 to 2006, the total glacier area in the Aktru basin shrank by 7.2% (1.2 km"2). During the last three decades, the rate of glacier area loss increased by a factor of 1.8, thus resembling trends in other mountain systems of Eurasia (Alps, Tien Shan). ...

The Effect of Graded Recession and Anteriorization on Unilateral Superior Oblique Palsy

The abundant microbial population in a 3,043-m-deep Greenland glacier ice core was dominated by ultrasmall cells (<0.1 μm³) that may represent intrinsically small organisms...Full Text Available

2005-12-01

RISK-XLR: A Microcomputer-Based Genetic Risk Program for X-Linked Recessive Traits

PurposeWe wanted to examine the effect of graded recession and anteriorization of the inferior oblique muscle on patients suffering from unilateral superior oblique palsy.MethodsInferior...Full Text Available

2006-09-01

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

A computer program, RISK-XLR, which calculates genetic risk for carrier status of a Mendelian X-linked recessive condition has been written for the Macintosh series of microcomputers. The program,...Full Text Available

1987-11-04

The geology of the Nimrod Glacier - Beaumont Bay area - GCMD - NASA

We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79...Full Text Available

2010-03-12

Numerical testing of hypotheses for the recent thinning and acceleration of Greenland outlet glaciers

Antarctic geology: proceedings of the 1st International Symposium on Antarctic Geology, Cape Town, 16-21 September 1963. Adie, R.J. (ed) Amsterdam North ...

Environmental Research Database

ObjectivesThe overall scientific aim of this project is, through development of an appropriate numerical modelling tool, to identify and investigate the mechanisms that control the current observed rapid thinning and acceleration of Greenland outlet glaciers and to investigate their likely future behaviour in the context of climate warming. This aim is addressed through the four major specific objectives below. These objectives build on each and therefore the order of priority is driven by the order in wh [continued...]DescriptionCurrently, the Greenland ice sheet is undergoing rapid changes in the coastal regions which have been attributed to a general warming trend to the regions climate over the last decade. Several of the narrow and fast flowing outlet glaciers that drain the ice sheet into the sea are observed to have accelerated their flow and thinned. For instance, Jakobshavn Isbrae on the West coast of Greenland has almost doubled its ...

2008-01-31

Divergence of AMP Deaminase in the Ice Worm Mesenchytraeus solifugus (Annelida, Clitellata, Enchytraeidae)

Correlation of Byrd and Selborne groups, with implications for the Byrd Glacier discontinuity, central Transantarctic Mountains, Antarctica

Glacier ice worms, Mesenchytraeus solifugus and related species, are the largest glacially obligate metazoans. As one component of cold temperature adaptation, ice worms maintain atypically...Full Text Available

The early phase change Gene in Maize

South of Byrd Glacier, central Transantarctic Mountains, Antarctica, Lower Cambrian Shackleton Limestone (Byrd Group) is divided into four informal members. The transition from Shackleton carbonates to clastics of Starshot Formation is conformable, with alternating units of limestone and argillite, and a thick succession of pillow basalt. Douglas Conglomerate is interbedded with and overlies Starshot Formation, and overlies folded Shackleton Limestone unconformably. Lower amphibolite-grade Selborne Group is composed of Madison Marble and Contortion Schist. The contact between the two formations is interbedded marble and schist, and includes metabasalt. We correlate Byrd Group with Selborne Group, Shackleton Limestone with Madison Marble, and Starshot Formation and Douglas Conglomerate with Contortion Schist. These correlations and the lack of equivalent lithologies to the north of Byrd Glacier imply that Byrd Glacier is the ...

2004-06-01

Pseudocraters as indicators of ground ice on Mars

Recessive mutations of the early phase change (epc) gene in maize affect several aspects of plant development. These mutations were identified initially because of...Full Text Available

2002-01-01

Type I Collagen Is a Genetic Modifier of Matrix Metalloproteinase 2 in Murine Skeletal Development

Positive identification of Martian pseudocraters would be a strong indication of past occurrence of ice at or near the surface of Mars. The basis for suggesting that small cones on Mars are pseudocraters includes: (1) small size, (2) abundant but patchy distribution on what appear to be volcanic plains, (3) presence of other features suggestive of surface or subsurface ice, (4) morphological similarities to Icelandic pseudocraters, and (5) the similarity in distribution of crater/cone diameter ratios to Icelandic pseudocraters. This last morphometric parameter may be the most important, since other possible small terrestrial volcanic analogs have very different crater/cone diameter ratio distributions. In a survey of the available high resolution Viking Orbiter imagery, abundant fields of possible pseudocraters were found. However, only a small fraction of the plains forming units imaged at high resolution were found to contain the small cones. ...

1987-05-01

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Recessive inactivating mutations in human matrix metalloproteinase 2 (MMP2, gelatinase A) are associated with syndromes that include abnormal facial appearance, short stature, and severe bone...Full Text Available

2007-06-01

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients

PurposeIt has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss...Full Text Available

Progression of Neuronal and Synaptic Remodeling in the rd10 Mouse Model of Retinitis Pigmentosa

PurposeTo present full ophthalmologic examination and retinal nerve fiber layer (RNFL) photographs of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patients...Full Text Available

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Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

The Pde6b^rd10 (rd10) mouse has a moderate rate of photoreceptor degeneration and serves as a valuable model for human autosomal recessive retinitis pigmentosa...Full Text Available

2010-06-01

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic...Full Text Available

1996-01-01

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa

PurposeRetinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations...Full Text Available

Knockout of Arabidopsis ACCELERATED-CELL-DEATH11 encoding a sphingosine transfer protein causes activation of programmed cell death and defense

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding...Full Text Available

2010-11-01

Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

We describe the lethal, recessive accelerated-cell-death11 Arabidopsis mutant (acd11). Cell death in acd11 exhibits characteristics of animal apoptosis...Full Text Available

2002-02-15

Functional and Behavioral Restoration of Vision by Gene Therapy in the Guanylate Cyclase-1 (GC1) Knockout Mouse

An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is...Full Text Available

1988-03-01

Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population

BackgroundRecessive mutations in guanylate cyclase-1 (Gucy2d) are associated with severe, early onset Leber congenital amaurosis-1(LCA1). Gucy2d...Full Text Available

Chapter 61: Photoreceptor Cell Degeneration in Abcr^?/? Mice

Accurate prediction of the pathogenic effects of specific genotypes is important for the design and execution of clinical trials as well as for meaningful counseling of individual patients. However,...Full Text Available

2010-10-01

Cell kinetics of growth cartilage of achondroplastic (cn) mice.

Mice harboring a null mutation in Abca4/Abcr serve as a model of autosomal recessive Stargardt disease. Consistent with the human retinal disorder, deficiency...Full Text Available

2010-01-01

COL9A2 and COL9A3 mutations in canine autosomal recessive Oculo-skeletal Dysplasia

Mice homozygous for the recessive gene achondroplasia (cn) aged 16 and 17 days and some homozygotes aged 22-34 days have disruptions in the growth of the proximal tibial growth plate which are due solely...Full Text Available

1985-05-01

Addressing the Question of the Effect of RBC Storage on Clinical Outcomes: The Red Cell Storage Duration Study (RECESS) (Section 7)

Oculo-skeletal dysplasia segregates in two canine breeds, the Labrador retriever and samoyed, in which the causative loci have been termed drd1 and drd2, respectively....Full Text Available

2010-08-01

Intermediate form of osteopetrosis with recessive inheritance

The question of whether storage of red blood cells (RBCs) alters their capacity to deliver oxygen and affects patient outcomes remains in a state of clinical equipoise. Studies of the changes...Full Text Available

2010-08-01

Spectrometric techniques application to study of environmental contamination levels in south Shetland Antarctic

The clinical and radiographic features of the intermediate form of osteopetrosis in two sibs are presented in which the disorder appears to have been inherited as a recessive trait. Although this form of osteopetrosis has been poorly delineated, its recognition is practically important in order to give an accurate prognosis. This paper also presents an unusual complication of bilateral avascular necrosis of the femoral head in the younger sib. Radiographic changes of the femoral heads suggest those of Legg-Calve-Perthes disease, though the possibility of avascular necrosis following unrecognized femoral neck fracture is not completely excluded. (orig.).

Intake system for direct fuel injection diesel engine

The methodology for studying the behaviour of the toxic pollutant metals (Hg, Pb, Cd, Cr) in the South Shetland region is presented here, toxic pollutants are caused by the urban and industrial activity at the Southern hemisphere and they are pressured to be incorporated to the region though atmospheric transport processes the Cs 137 (refI) was used as a tracing element, which was freed and dispersed in the atmosphere as a result of nuclear bombs testing. During the austral summer samples from ground, sediments, atmospheric and glacier were extracted.

POP bioaccumulation in macroinvertebrates of alpine freshwater systems

An intake system is described for a direct fuel injection diesel engine having a cylinder block, at least one cylinder in the cylinder block, a piston in the cylinder having a recess on a top surface thereof, a cylinder head mounted on the cylinder block on top of the cylinder, a fuel injector adapted to directly inject fuel into a combustion chamber formed between the lower side of the cylinder head and the recess on the top surface of the piston, and below the injector, and a single exhaust passage opening to the combustion chamber at a location near the injector, the intake system comprising first and second intake passages in the cylinder head, the first and second intake passages are independent of each other and adapted to introduce air into the combustion chamber. The controller means are coupled to the second intake passage for controlling the flow of air therethrough.

1987-08-25

Geochemical features of re-deposited organic matter occurring in fluvioglacial sediments in the Racib?rz region (Poland): A case study

This study serves to investigate the uptake of POPs in the different trophic levels (scrapers, collectors, predators, shredders) of macroinvertebrate communities sampled from a glacial and a non-glacial stream in the Italian Alps. The presented results show that the contaminant concentrations in glacial communities are generally higher compared to those from non-glacial catchments, highlighting the importance of glaciers as temporary sinks of atmospherically transported pollutants. Moreover, the data also suggests that in mountain systems snow plays an important role in influencing macroinvertebrate contamination. The main chemical uptake process to the macroinvertebrates is considered to be bioconcentration from water, as similar contaminant profiles were observed between the different trophic levels. The role of biomagnification/bioaccumulation is thought to be absent or negligible. The enrichment of chemicals observed in the predators is likely to be related to ...

2009-12-01

British Library Electronic Table of Contents (United Kingdom)

The erosion of rocks rich in organic matter typically leads to the complete mineralization of the organic material. However, in some cases, it is re-deposited to become a part of sediments once more. This process should be considered to be a part of global carbon cycle, possibly much more significant than assumed to-date. The research presented here aims to characterize re-worked organic matter occurring in post-glacial sediments of southern part of Poland, in the Oder river valley (the Racib?rz town region, Miocene, Pleistocene and Holocene age). Organic substances extracted from the sediments originated from organic matter that had resided in rocks eroded by glaciers. Sediments were sampled in two boreholes which sediments were correlated. Sediments were extracted and extracts analyzed w...

2008-01-01

Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

Induction and use of sex linked lethal mutations in the pink bollworm

Background/AimsFabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence...Full Text Available

2010-12-01

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

The sterile insect release technique can often be improved by removal of females before release. Rearing efficiencies can also be increased if removal of the females occurs at early developmental stages. In order to begin to develop genetic sexing strains for the pink bollworm, Pectinophora gossypiella (Saunders), it was necessary to determine the best dosage of radiation for induction of viable sex linked recessive lethal mutations and to see if stocks containing induced sex linked lethals could be maintained in culture. Sex linked recessive lethal mutations can be detected by distorted sex ratios in the progeny of treated adults. However, in the pink bollworm, highly distorted sex ratios are common even in the absence of induced mutations. Therefore, a visible sex linked trait, purple eye, was used as a marker for the untreated X-chromosomes in crosses. Thus, the presence of a recessive sex linked lethal mutation induced ...

1987-11-16

Hinged steam generator nozzle plug

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region...Full Text Available

2010-09-10

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A nozzle plug for blocking a nozzle in a nuclear steam generator is improved by the addition of hinges which allow the nozzle plug to be inserted into the steam generator through an access port of substantially smaller diameter than the nozzle. A recess is provided in one of the semi-circular plates allowing the plates to nest, further reducing the necessary size of the access port.

1984-11-20

Fuel injector

Comparative study of the reactions of metal oxides with H[sub 2]S and SO[sub 2

A fuel injector comprises first and second housing parts, the first housing part being located within a bore or recess formed in the second housing part, the housing parts defining therebetween an inlet chamber, a delivery chamber axially spaced from the inlet chamber, and a filtration flow path interconnecting the inlet and delivery chambers to remove particulate contaminants from the flow of fuel therebetween.

2001-02-27

Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa

Primary objective was to investigate the effects of pore structure on capacity of porous metal oxides for removal of SO[sub 2] from power plant fuel gas and H[sub 2]S from hot coal gas. During this period, a comparative study was carried out on the direct reaction with H[sub 2]S and SO[sub 2] of the three limestones used as CaO precursors: Greer limestone, Georgia marble, and Iceland spar calcite. Sulfation was carried out at 750 and 850 C in a thermogravimetric analysis system under simulated high pressure (enough CO[sub 2] to prevent decomposition of CaCO[sub 3]). Results are presented as conversion vs time graphs. Mercury penetration and gas adsorption were used to analyze the structure. Activation energies and effective diffusivities were determined. A variable diffusivity shrinking-core model was used to analyze the data. In the future, this limestone study will be completed, and a study on supported CuO sorbent will be started.

1992-01-01

British Library Electronic Table of Contents (United Kingdom)

The retinal degeneration 10 (rd10) mouse is a well-characterized model of autosomal recessive retinitis pigmentosa (RP), which carries a spontaneous mutation in the ? subunit of rod cGMP-phosphodiesterase (PDE?). Rd10 mouse exhibits photoreceptor dysfunction and rapid rod photoreceptor degeneration followed by cone degeneration and remodeling of the inner retina. Here, we evaluate whether gene replacement using the fast-acting tyrosine-capsid mutant AAV8 (Y733F) can provide long-term therapy in this model. AAV8 (Y733F)-smCBA-PDE? was subretinally delivered to postnatal day 14 (P14) rd10 mice in one eye only. Six months after injection, spectral domain optical coherence tomography (SD-OCT), electroretinogram (ERG), optomotor behavior tests, and immunohistochemistry showed tha...

2011-01-01

A YAC contig encompassing the recessive Stargardt disease gene (STGD) on chromosome 1p

Loaded Transducer Fpr Downhole Drilling Component

Stargardt disease (STGD) and fundus flavimaculatus are infrequent autosomal recessive conditions characterized by a juvenile macular dystrophy and variable degrees of peripheral retinal changes. Linkage analysis performed in 47 STGD/fundus flavimaculatus families demonstrated significant linkage to 13 polymorphic DNA markers on chromosome 1p. The maximum combined two-point lod score was 32.7 (maximum recombination fraction [{theta}{sub max}] = .006) with the polymorphic marker D1S188. Our data demonstrate that STGD and fundus flavimaculatus are the same disorder clinically and genetically and provide further evidence for genetic homogeneity of this phenotype. Analysis of recombination on disease chromosomes placed the STGD gene within a 4-cM interval between markers D1S435 and D1S236. A physical map was constructed of a YAC contig flanking STGD, from markers D1S500 to D1S495, and includes the critical interval delineated by historical recombinants. This contig ...

1995-12-01

Pattern and process in Northern Rocky Mountain headwaters: Ecological linkages in the headwaters of the Crown of the Continent

A robust transmission element for transmitting information between downhole tools, such as sections of drill pipe, in the presence of hostile environmental conditions, such as heat, dirt, rocks, mud, fluids, lubricants, and the like. The transmission element maintains reliable connectivity between transmission elements, thereby providing an uninterrupted flow of information between drill string components. A transmission element is mounted within a recess proximate a mating surface of a downhole drilling component, such as a section of drill pipe. To close gaps present between transmission elements, transmission elements may be biased with a "spring force," urging them closer together.

2005-07-05

Comparison of secondary metabolite production by Penicillium crustosum strains, isolated from Arctic and other various ecological niches.

The Crown of the Continent is one of the premiere ecosystems in North America containing Waterton-Glacier International Peace Park, the Bob Marshall-Great Bear-Scapegoat Wilderness Complex in Montana, various Provincial Parks in British Columbia and Alberta, several national and state forest lands in the USA, and Crown Lands in Canada. The region is also the headwater source for three of the continent's great rivers: Columbia, Missouri and Saskatchewan that flow to the Pacific, Atlantic and Arctic Oceans, respectively. While the region has many remarkably pristine headwater streams and receiving rivers, there are many pending threats to water quality and quantity. One of the most urgent threats comes from the coal and gas fields in the northern part of the Crown of the Continent, where coal deposits are proposed for mountain-top removal and open-pit mining operations. This will have significant effects on the waters of the region, its native plants and ...

2007-02-15

Up in smoke? Latin America and the Caribbean. The threat from climate change to the environment and human development. The third report from the Working Group on Climate Change and Development

Penicillium crustosum is common in food and feed both in subtropical and temperate regions. Recently, it has also been found occurring frequently in glacier ice, sea ice and sea water of Arctic regions of Svalbard. The aim of the study was to compare isolates of the same fungal species from widely different habitats and geographic regions to see if the nutritional physiology and the profile of secondary metabolites were consistent or depended on the isolation source. All 121 strains examined produced the following families of secondary metabolites: penitrems (100%), roquefortines (100%), terrestric acids (99.2%) and viridicatols (100%), whereas 81 of 83 Arctic isolates additionally produced andrastin A. However, only 8 of 38 non-Arctic isolates produced detectable andrastin A. The quantitative profiles of 96 strains were compared using cluster, principal component and correspondence analyses. There was no clear grouping of Arctic versus non-Arctic, creatine ...

2004-12-22

Removal of H2S and SO2 by CaCO3-Based Sorbents at High Pressure

For years, the writing has been on the wall about the impact of climate change on the people, plants, animals, and habitats of Latin America and the Caribbean. Now, day-to-day experiences and eye-witness accounts from leading environmental and development groups are proving predictions to be correct. In the late 1990s, the world's pre-eminent group of climate scientists gathered under the Intergovernmental Panel on Climate Change (IPCC) and predicted a devastating range of impacts, including an increase in the intensity and number of extreme weather events exacerbating natural disasters, forest die-off, melting glaciers, and the drying out of temperate grasslands. The region's huge geographical diversity means that patterns of vulnerability to climate change are extremely varied. It also makes modelling difficult, although this is constantly improving. To avoid misunderstanding, it is important to point out that with or without global warming, ...

2006-08-15

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

The theoretical and experimental investigation of the mechanism of SO2 and H2S removal by CaCO3 -based sorbents (limestones and dolomites) in pressurized uidized-bed coal combustors (PFBC) and high pressure gasiers, respectively, is the main objective of this study. It is planned to carry out reactivity evolution experiments under simulated high pressure conditions or in high pressure thermogravimetric and, if needed, uidized- bed reactor (high pressure) arrangements. The pore structure of fresh, heat-treated, and half-calcined solids (dolomites) will be analyzed using a variety of methods. Our work will focus on limestones and dolomites whose reaction with SO2 or H2S under atmospheric conditions has been studied by us or other research groups in past studies. Several theoret- ical tools will be employed to analyze the obtained experimental data including a variable diusivity shrinking-core model and models for diusion, reaction, and structure evolution in chemically reacting porous ...

1998-02-01

Recent developments: Washington focus

Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic ''cylindrical-shape'' thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder. (orig.)

2006-09-01

Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters

November was a quiet month in Washington. Although Congress has recessed until 1991, the Senate filled vacancies in party leadership positions created by November's elections. The House is expected to proceed with its changes in early December. The Nuclear Energy Forum was held in Washington, DC on November 11-14 to discuss the status of the nuclear industry in the USA. The Forum, held in conjunction with the American Nuclear Society's annual meeting, assembled a large number of CEO's from US, European, and Far Eastern utilities and vendors. The meeting concluded with an announcement by Philip Bayne, President of NYPA and chairman of the Nuclear Power Oversight Committee (NPOC), of the results of a year-long NPOC study entitled a open-quotes Strategic Plan for Building New Nuclear Power Plants.close quotes.

British Library Electronic Table of Contents (United Kingdom)

Research on hematological disorders relies on suitable animal models. We retrospectively evaluated the use of the hematological parameters hematocrit (HCT), hemoglobin (HGB), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), red blood cell count (RBC), white blood cell count (WBC), and platelet count (PLT) in the phenotype-driven Munich N-ethyl-N-nitrosourea (ENU) mouse mutagenesis project as parameters for the generation of novel animal models for human diseases. The analysis was carried out on more than 16,000 G1 and G3 offspring of chemically mutagenized inbred C3H mice to detect dominant and recessive mutations leading to deviations in the levels of the chosen parameters. Identification of animals exhibiting altered valu...

2011-01-01

Absence of the A4 peptide in the G4 glycinin subunit of soybean cultivar Enrei is caused by a point mutation in the Gy4 gene

Scientific Electronic Library Online (English)

Abstract in english Functional properties of soy proteins for food are closely related to the composition of their storage protein subunits. Using base excision sequence scanning (BESS), we show that the absence of the A4 peptide in the G4 glycinin subunit of the soybean (Glycine max L.) cultivar Enrei was caused by the same point mutation in the Gy4 gene as previously reported in the soybean cultivar Raiden. Although the genetic relationship between Raiden and Enrei is not known, the same p (more) oint mutation in their Gy4 genes may indicate that they probably share a related origin. The application of BESS to identify single nucleotide polymorphisms (SNPs) as co-dominant markers for marker-assisted selection (MAS) of a recessive null allele is also discussed.

2005-09-01

The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3

Novel silicon fabrication process for high-aspect-ratio micromachined parts

Jittery (ji) is a recessive mouse mutation on Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, and death by dehydration/starvation before fertility. Recently, a viable neurological recessive mutation, hesitant, was discovered. It is characterized by hesitant, uncoordinated movements, exaggerated stepping of the hind limbs, and reduced fertility in males. In a complementation test and by genetic mapping we have shown here that hesitant and jittery are allelic. Using several large intersubspecific backcrosses and intercrosses we have genetically mapped ji near the marker Amh and microsatellite markers D10Mit7, D10Mit21, and D10Mit23. The linked region of mouse Chromosome 10 is homologous to human 19p13.3, to which several human ataxia loci have recently been mapped. By excluding genes that map to human 21q22.3 (Pfkl) and 12q23 (Nfyb), we conclude that jittery is not likely to be a genetic mouse ...

1996-08-01

Late-onset Stargardt-like macular dystrophy maps to chromosome 1p13

Bulk micromachining generally refers to processes involving wet chemical etching of structures formed out of the silicon substrate and so is limited to fairly large, crude structures. Surface micromachining allows intricate patterning of thin films of polysilicon and other materials to form essentially two-dimensional layered parts (since the thickness of the parts is limited by the thickness of the deposited films). There is a third type of micromachining in which the part is formed by filling a mold which was defined by photolithographic means. Historically micromachining molds have been formed in some sort of photopolymer, be it with x-ray lithography (``LIGA``) or more conventional UV lithography, with the aim of producing piece parts. Recently, however, several groups including ours at Sandia have independently come up with the idea of forming the mold for mechanical parts by etching into the silicon substrate itself. In Sandia`s mold process, the mold is ...

1995-08-01

Anatomic variations on PNS CT

Stargardt`s disease (MIM 248200), originally described in 1909, is an autosomal recessive condition of childhood, characterized by a sudden and bilateral loss of central vision. Typically, it has an early onset (7 to 12 years), a rapidly progressive course and a poor final outcome. The central area of the retina (macula) displays pigmentary changes in a ring form with depigmentation and atrophy of the retinal pigmentary epithelium (RPE). Perimacular yellowish spots, termed fundus flavimaculatus, are observed in a high percentage of patients. We have recently reported the genetic mapping of Stargardt`s disease to chromosome 1p13. On the other hand, considering that fundus flavimaculatus (MIM 230100) is another form of fleck fundus disease, with a Stargardt-like retinal aspect but with a late-onset and a more progressive course, we decided to test the hypothesis of allelism between typical Stargardt`s disease and late-onset autosomal recessive ...

1994-09-01

Anatomic variations on PNS CT

To illustrate frequently encountered anatomic variations on PNS computed tomography(CT) and to assess their clinical significance. CT findings of 1523 patients, who underwent PNS CT with no history of sinus surgery, were reviewed, and prevalence of each anatomic variation and its relationship with mucociliary clearance pathway was evaluated. Two categories of anatomic variations were encountered. The first group included variations of the turbinates, such as concha bullosa(28.6%), paradoxical middle turbinate(31.5%), of the uncinate process, such as medially bent or folded(36.3%), laterally bent(3.7%) or uncinate bulla(0.5%), of the ethmoidal sinus, such as Haller's cell(28.2%), large agger nasi cell(9.6%) or large ethmoidal bulla(23.5%) and nasal septal deviation(24.1%), which might cause obstruction of mucociliary clearance pathway and thus give rise to secondary obstructive sinusitis. The second group included Onodi cell(1.4%) and medial depression of the lamina ...

1994-09-15

The role of Computerized Tomography in osteoid-osteoma diagnosis

1994-09-01

The mouse formin (Fmn) gene: Genomic structure, novel exons, and genetic mapping

Alcaptonuria is a rare autosomal recessive metabolic disease, due to the lack of homogentisic acid oxidase. The following accumulation of homogentisic acid brings about a black discoloration of both the urine alcaptonuria) and connective tissue (ochronosis). The ochronotic alterations into joint cartilages cause degenerative arthropathy and osteopenia. The radiological features of three unrelated cases of alcaptonuria are reported. Radiographic abnormalities of ochconotic arthropathy are found in both the spine and the extraspinal joints. In the spine, the progressive calcification and ''vacuum'' phenomenon of disc spaces are the most characteristic findings. Disc space narrowing is associated with calcification and marginal sclerosis of vertebral bodies and is accentuated by osteopenia. Osteophytes are usually absent or of small size; neverthless progressive formation of marginal intervertebral bridges and obliteration of disc spaces at multiple levels ...

1988-01-01

1 2 3 4 5

The challenges in building Sasol Two and Three in South Africa

Mutations in the mouse formin (Fmn) gene, formerly known as the limb deformity (ld) gene, give rise to recessively inherited limb deformities and renal malformations or aplasia. The Fmn gene encodes many differentially processed transcripts that are expressed in both adult and embryonic tissues. To study the genomic organization of the Fmn locus, we have used Fmn probes to isolate and characterize genomic clones spanning 500 kb. Our analysis of these clones shows that the Fmn gene is composed of at least 24 exons and spans 400 kb. We have identified two novel exons that are expressed in the developing embryonic limb bud as well as adult tissues such as brain and kidney. We have also used a microsatellite polymorphism from within the Fmn gene to map it genetically to a 2.2-cM interval between D2Mit58 and D2Mit103. 36 refs., 6 figs., 1 tab.

1997-02-01

Loss of PINK1 function decreases PP2A activity and promotes autophagy in dopaminergic cells and a murine model

In 1980, Congress passed the energy security act which created the United States Synthetic Fuels Corporation. This entity was created to serve as a catalyst for the development of synthetic fuels projects by the private sector. Then what happened. Increased exploration in the United States stimulated by relaxation of price controls on oil produced an increase in reserves of these resources. Fuel conservation, combined with a reduced energy demand caused by a recession, significantly reduced our overall energy consumption and curtailed our imports of foreign crude oil. All of these factors combined have reduced the enthusiasm to invest in synthetic fuels plants, in spite of the fact that the difference between surplus and shortage is frighteningly thin. South Africa, compared to the U.S., is a small country. The Sasol Two and Sasol Three projects are equivalent to a U.S. investment of $400 billion, on a country size-by-size basis. It's hard to believe that ...

1983-12-01

British Library Electronic Table of Contents (United Kingdom)

Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Mutations in PTEN-induced kinase 1 (PINK1) are a frequent cause of recessive PD. Autophagy, a pathway for clearance of protein aggregates or impaired organelles, is a newly identified mechanism for PD development. However, it is still unclear what molecules regulate autophagy in PINK1-silenced cells. Here we report that autophagosome formation is promoted in the early phase in response to PINK1 gene silencing by lentivirus transfer vectors expressed in mouse striatum. Reduced PP2A activity and increased phosphorylation of PP2A at Y307 (inactive form of PP2A) were observed in PINK1-knockdown dopaminergic cells and striatum tissues. Treatment with C2-ceramide (an agonist of PP2A) reduced autophagy levels in PINK...

2011-01-01

Energy Predictions 2011

Electrical characteristics of AlxGa1-xN Schottky diodes prepared by a two-step surface treatment

Even as the recession begins to subside, the energy sector is still likely to experience challenging conditions as we enter 2011. It should be remembered how very important a role energy plays in driving the global economy. Serving as a simple yet global and unified measure of economic recovery, it is oil's price range and the strength and sustainability of the recovery which will impact the ways in which all forms of energy are produced and consumed. The report aims for a closer insight into these predictions: What will happen with M and A (Mergers and Acquisitions) in the energy industry?; What are the prospects for renewables?; Will the water-energy nexus grow in importance?; How will technological leaps and bounds affect E and P (exploration and production) operations?; What about electric cars? This is the second year Deloitte's Global Energy and Resources Group has published its predictions for the year ahead. The report is based on in-depth interviews with ...

Effects of focused-ion-beam irradiation on perpendicular write head performance

Near-ideal Schottky barrier contacts to n-type Al0.22Ga0.78N have been developed by a two-step surface treatment technique. Plasma etching of the AlxGa1-xN surface prior to Schottky metal deposition, combined with sequential chemical treatment of the etched surface, holds promise for developing high quality low-leakage Schottky contacts for low noise applications and for recessed gate high electron mobility transistors. In this work, the effect of postetch chemical treatment of the n-type Al0.22Ga0.78N surface on the performance of the Ni/Au based Schottky contact has been investigated. Three different types of chemical treatment: viz, reactive ion etching, reactive ion etching plus dipping in hot aqua regia, and reactive ion etching plus dipping in hot KOH, are studied. Detailed current-voltage studies of three different surface treated diodes and a comparison with as-deposited diodes reveal significant improvement in the diode characteristics. The latter surface ...

2004-09-01

Combined peritoneography and computerized tomography for evaluating abdominal complications in patients undergoing continuous peritoneal dialysis

The effects of focused-ion-beam (FIB) irradiation on writer performance were examined on a perpendicular recording system. The entire top pole was irradiated by FIB with ion doses from 0 to 300 pC/#mu#m"2. PW_5_0 and signal to noise ratio (SNR) were characterized using a spin stand before and after FIB irradiation. It was found that there is degradation of PW_5_0 and SNR due to FIB irradiation. At the maximum dose (300 pC/#mu#m"2), PW_5_0 increased by 33 nm (>30%) and SNR decreased by 5 dB (>25%). The degradation was attributed to the physical pole tip recession and the formation of a magnetic dead layer. The thickness of the magnetic dead layer was estimated by analyzing the write spacing loss. Using atomic force microscopy and stage current change monitored during FIB process, it was found that the entire 4-nm protective carbon layer was etched away with a dose of 25 pC/#mu#m"2. This result implies that the degradation with ion doses <25 pC/#mu#m"2 is ...

2003-05-15

Braking system for use with an arbor of a microscope

Continuous ambulatory peritoneal dialysis (CAPD) is a generally well-tolerated treatment. However, some patients exhibit such complications as to prevent the continuation of treatment. Peritonitis is the major problem, but the continuation of treatment may also be undermined by different complications, such as peritoneal leakage, hernia, catheter malfunctioning, and scrotal-penile edema; a careful investigation of the patient is always needed in such cases. From November 1985 to February 1990, we examined 20 patients, who had presented with different types of complications in the course of dialysis. Peritoneography demonstrated 3 cases of abdominal hernias, 2 cases of patency of the peritoneal-vaginal duct, and 2 cases of catheter obstruction. Peritoneal CT allowed the identification of leakage in 3 patients, while the combined use of the two techniques showed adhesions or pathologic peritoneal recesses in 7 cases. In 3 patients normal patterns were observed. ...

1985-11-01

A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (A{sup y}) mutation

A balanced braking system comprising a plurality of braking assemblies located about a member to be braked. Each of the braking assemblies consists of a spring biased piston of a first material fitted into a body of a different material which has a greater contraction upon cooling than the piston material. The piston is provided with a recessed head portion over which is positioned a diaphragm and forming a space therebetween to which is connected a pressurized fluid supply. The diaphragm is controlled by the fluid in the space to contact or withdraw from the member to be braked. A cooling device causes the body within which the piston is fitted to contract more than the piston, producing a tight shrink fit therebetween. The braking system is particularly applicable for selectively braking an arbor of an electron microscope which immobilizes, for example, a vertically adjustable low temperature specimen holder during observation. The system provides balanced ...

Influence of solar activity and environment on 10Be in recent natural archives

Lethal yellow (A{sup y}) is a mutation at the mouse agouti locus in chromosome 2 that causes a number of dominant pleiotropic effects, including a completely yellow coat color, obesity, an insulin-resistant type II diabetic condition, and an increased propensity to develop a variety of spontaneous and induced tumors. Additionally, homozygosity for A{sup y} results in preimplantation lethality, which terminates development by the blastocyst stage. The A{sup y} mutation is the result of a 170-kb deletion that removes all but the promoter and noncoding first exon of another gene called Raly, which lies in the same transcriptional orientation as agouti and maps 280 kb proximal to the 3{prime} end of the agouti gene. The authors present a model for the structure of the A{sub y} allele that can explain the dominant pleiotropic effects associated with this mutation, as well as the recessive lethality, which is unrelated to the agouti gene.

1994-03-29

Three novel mutations responsible for Cockayne syndrome group A

Understanding the link between the Sun and climate is vital in the current incidence of global climate change, and 10Be in natural archives constitutes an excellent tracer for this purpose. As cosmic rays enter the atmosphere, cosmogenic isotopes like 10Be and 14C are formed. Variations in solar activity modulate the amount of incoming cosmic rays, and thereby cosmogenic isotope production. Atmospherically produced 10Be enters natural archives such as sediments and glaciers by wet and dry deposition within about a year of production. 10Be from natural archives therefore provides information on past solar activity, and because these archives also contain climate information, solar activity and climate can be linked. One remaining question is to what degree 10Be in natural archives reflects production, and to what extent the local and regional environment overprints the production signal. To explore this, 10Be was measured at annual resolution over the last 600 years ...

2009-05-15

Reduction of RF-sheaths potentials by compensation or suppression of parallel RF currents on ICRF antennas

Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by ultraviolet (UV)-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large deletion in the upstream region including exon 1 of the CSA gene. ...

2003-02-01

Missense mutations in the growth hormone receptor dimerization region in Laron syndrome

Radio frequency (RF) sheaths are suspected of limiting the performance of present-day ion cyclotron range of frequencies (ICRFs) antennas over long pulses and should be minimized in future fusion devices. Within the simplest models, RF-sheath effects are quantified by the integral VRF = ? E|| ? dl where the parallel RF field E|| is linked with the slow wave. On 'long open field lines' with large toroidal extension on both sides of the antenna it was shown that VRF is excited by parallel RF currents j|| flowing on the antenna structure. In this paper, the validity of this simple sheath theory is tested experimentally on the Tore Supra (TS) ITER-like antenna prototype (ILP), together with antenna simulation and post-processing codes developed to compute VRF. The predicted poloidal localization of high-|VRF| zones is confronted to that inferred from experimental data analysis. Surface temperature distribution on ILP front face, as well as ILP-induced modifications of RF coupling and hot ...

2010-02-01

MRI in the diagnosis of non-compacted ventricular Myocardium (NCVM) compared to echocardiography

Laron syndrome (LS) is an autosomal recessively inherited condition characterized by insensitivity to endogenous and exogenous GH. Affected individuals have severe episodes and other characteristic features. GH receptor gene mutations are present in all affected individuals in whom molecular studies have been reported. The GH receptor is a plasma membrane-spanning protein in which the extracellular domain binds circulating GH and the intracellular domain interacts with the JAK-2 kinase and possibly other intracellular signaling molecules. GH receptor dimerization occurs on GH binding and is thought to be required for normal signal transduction. We have studied the GH receptor genes of four unrelated individuals affected with LS from the United States, Italy, Saudi Arabia, and India. We have identified four different missense mutations that alter consecutive amino acids 152 to 155 in or near the dimerization domain of the GH receptor. One of these mutations, D152H, ...

1994-09-01

Linkage analysis in familial Angelman syndrome

Purpose: To report the detection of con-compacted ventricular myocardium (NVCM) with MRI compared to echocardiography in 8 patients. Material and methods: Non-compaction of the ventricular myocardium is a congenital disorder characterized by an altered structure of the myocardial wall resulting from an intrauterine arrest in endomyocardial embryogenesis. The morphological findings consist of a prominent meshwork of multiple myocardial trabeculations and deep intertrabecular recesses, communicating with the left ventricular cavity. 8 consecutive patients (mean age 7.3 years) with clinical and echocardiographic signs of NCVM were examined by MRI (1.5 T, Vision, Siemens) in short axis and 2- and 4-chamber views, using T_1-weighted TSE and Cine-GRE in 6 patients and true FISP sequences in 2 patients. MRI and echocardiography were evaluated for visibility, signs of NCVM and involvement of myocardial wall segments. Thickness was measured for non-compacted and compacted ...

2003-09-01

Ionizing radiation-induced mutation of human cells with different DNA repair capacities

Familial Angelman syndrome (AS) can result from mutations in chromosome 15q11q13 that, when transmitted from father to child, result in no phenotypic abnormality but, when transmitted from mother to child, cause AS. These mutations therefore behave neither as dominant nor as recessive mutations but, rather, show an imprinted mode of inheritance. The authors have analyzed two sibling pairs with AS and a larger family with four AS offspring of three sisters with several recently described microsatellite polymorphisms in the AS region. AS siblings inherited the same maternal alleles at the GABRB3 and GABRA5 loci, and the unaffected siblings of AS individuals inherited the other maternal alleles at these loci. In one of the AS sibling pairs, analysis of a recombination event indicates that the mutation responsible for AS is distal to locus D15S63. This result is consistent with a previously described imprinted submicroscopic deletion causing AS, a deletion that ...

1993-07-01

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43

We have observed significant differences in the response to ionizing radiation of two closely related human cell lines, and now compare the effects on these lines of both low and intermediate LET radiation. Compared to TK6, WTK1 has an enhanced X-ray survival, and is also more resistant to cell killing by {alpha}-particles. The hprt locus is more mutable in WTK1 than in TK6 by both X-rays and {alpha}-particles. WTK1 is also more mutable by {alpha}-particles than by X-rays at the hprt locus. X-ray-induced mutation at the heterozygous tk locus in WTK1 is about 25 fold higher than in TK6, while {alpha}-particle-induced mutation is nearly 50 fold higher at this locus. Also, the slowly growing tk- mutants, which comprise the majority of spontaneous and X-ray-induced tk- mutants of TK6, were not induced significantly by {alpha}-particles. Previously, we showed that TK6 has a reduced capacity for recombination compared with WTK1, and therefore, these results indicate that recombinational ...

1994-12-31

Genetic and physical location of the gene for Stargardt`s disease and further evidence for genetic homogeneity

The Chediak-Higashi syndrome (CHS) is a severe autosomal recessive condition, features of which are partial oculocutaneous albinism, increased susceptibility to infections, deficient natural killer cell activity, and the presence of large intracytoplasmic granulations in various cell types. Similar genetic disorders have been described in other species, including the beige mouse. On the basis of the hypothesis that the murine chromosome 13 region containing the beige locus was homologous to human chromosome 1, we have mapped the CHS locus to a 5-cM interval in chromosome segment 1q42.1-q42.2. The highest LOD score was obtained with the marker D1S235 (Z{sub max} = 5.38; {theta} = 0). Haplotype analysis enabled us to establish D1S2680 and D1S163, respectively, as the telomeric and the centromeric flanking markers. Multipoint linkage analysis confirms the localization of the CHS locus in this interval. Three YAC clones were found to cover the entire region in a contig ...

1996-09-01

Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4 acute and/or late tissue radiation side effects

Stargardt`s disease is inherited as an autosomal recessive condition characterized by a juvenile macular dystrophy. Genetic linkage analysis recently assigned the disease locus to chromosome 1p21-p13 with the best estimate for location of the gene near the locus D1S435. We performed linkage analysis in 34 North American families and 2 inbred families from the Kingdom of Saudi Arabia with 12 highly polymorphic markers on chromosome 1p flanking D1S435 between D1S207 and D1S223 and report significant linkage for all 12 markers with no evidence for genetic heterogeneity. Two-point linkage analysis demonstrated the Stargardt`s disease locus and D1S435 are linked with a maximum lod score of 17.17 at a recombination fraction of 1%. The markers UT851, D1S188, D1S424, UT2069, and D1S236 also demonstrated recombination fractions of 1% or less with two-point lod scores of 15.86, 21.93, 16.41, 20.36, and 17.37, respectively. To characterize this region further, fifty-five YACs ...

1994-09-01

MRI in the diagnosis of non-compacted ventricular Myocardium (NCVM) compared to echocardiography; MR-Tomographie in der morphologischen Darstellung der isolierten non-compaction des linksventrikulaeren Myokards (NCVM)

Purpose: Patients with ataxia-telangiectasia (A-T) show greatly increased radiation sensitivity and cancer predisposition. Family studies imply that the otherwise clinically silent heterozygotes of this autosomal recessive disease run a 3.5 to 3.8 higher risk of developing cancer. In vitro studies suggest moderately increased cellular radiation sensitivity of A-T carriers. They may also show elevated clinical radiosensitivity. We retrospectively examined patients who presented with severe adverse reactions during or after standard radiation treatment for mutations in the gene responsible for A-T, ATM, considering a potential means of future identification of radiosensitive individuals prospectively to adjust dosage schedules. Material and Methods: We selected 20 cancer patients (breast, 11; rectum, 2; ENT, 2; bladder, 1; prostate, 1; anus, 1; astrocytoma, 1; Hodgkins lymphoma, 1) with Grade 3 to 4 (RTOG) acute and/or late tissue radiation side effects by reaction ...

1999-07-15