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We report two new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the age of 8 months with recurrent hypoglycemic seizures. The second patient presented at 14 months with asymptomatic incidental hyperglycemia. Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia. Genetic analysis of the GYS2 gene
Let X-1, X-2, ... , X-k be independent n bit random variables. If they have arbitrary distributions, we show how to compute distributions like Pr{X-1 circle plus X-2 circle plus (...) circle plus X-k} and Pr{X-1 boxed plus X-2 boxed plus (...) boxed plus X-k} in complexity O(kn2(n)). Furthermore, if X-1, X-2, ... X-k are uniformly distributed we demonstrate a large class of functions F(X-1, X-2, .
Pilgrimages arranged by the Evangelical Lutheran Church of Sweden are a relatively new, but growing phenomenon. Th is study examines Swedish pilgrims’ background, motivations, and experiences. Most pilgrims are highly educated, middle-aged persons with a strong relation to the church. However, a group of religiously interested persons with weaker bonds with the church was also identifi ed. Th e pi
Using Monte Carlo methods, the properties of systemwise generalizations of the Breusch Godfrey test for autocorrelated errors are studied when there are some kinds of GARCH effects among the errors. The analysis, regarding the size of the test, reveals that the GARCH have considerable effects of the properties of the test regarding the size, especially in large systems of equations. The corrected
The action of three matrix metalloproteinases (MMPs), 72- and 95-kDa gelatinases (MMP-2 and MMP-9) and PUMP (MMP-7), and a cysteine proteinase, cathepsin B, were investigated on aggrecan the major proteoglycan of cartilage. All the enzymes cleaved aggrecan although the activity of the 95-kDa gelatinase was very low. Specific cleavage sites were investigated following incubation with a purified agg
Arthritis susceptibility genes were sought by analysis of differential gene expression between pristane-induced arthritis (PIA)-susceptible DA rats and PIA-resistant E3 rats. Inguinal lymph nodes of nave animals and animals 8 days after pristane injection were analyzed for differential gene expression. mRNA expression was investigated by microarray and real-time PCR, and protein expression was ana
(T)he main source of cohesion in cement paste is the nanoparticles of calcium silicate hydrate (C-S-H), which are formed upon the dissolution of the original tricalcium. silicate (C3S). The interaction between highly charged C-S-H particles in the presence of divalent calcium counterions is strongly attractive because of ion-ion correlations and a negligible entropic repulsion. Traditional double-
Remodeling of airway structures is a well-documented feature of allergic airway inflammation. To investigate whether bronchial remodeling is associated with remodeling of adjacent pulmonary vessels, sensitized mice were subjected to repeated ovalbumin inhalations, and bronchi and pulmonary vessels were subjected to histologic analysis. Allergen challenges induced peribronchial as well as perivascu
The main missions of the EuPA Education Committee (EuPA-EC) are to promote and enhance the quality of proteomics knowledge by creating educational programs and to initiate European-wide scientific exchange programs for young proteomics researchers. In this first report we present the initial actions we have undertaken in relation to the missions of the EuPA-EC, and the educational activities that
The evolutionary history of the common chloroplast (cp) genome of the allotetraploid Arabidopsis suecica and its maternal parent A. thaliana was investigated by sequencing 50 fragments of cpDNA, resulting in 98 polymorphic sites. The variation in the A. suecica sample was small, in contrast to that of the A. thaliana sample. The time to the most recent common ancestor (T-MRCA) of the A. suecica cp
A new particulate magnetic resonance (MR) contrast agent was prepared by controlled precipitation of iron oxide in an aqueous starch solution. The potential of the magnetic starch microspheres (MSM) as a hepatosplenic contrast enhancer was studied by MR spectroscopy and MR imaging. Intravascular administration of MSM to rodents showed an effective blood clearance and a tissue-specific localization
Macrophages are involved in the pathological process underlying atherosclerosis and constitutively express the multifunctional protein osteopontin which has important exogenous effects on these cells. However, the effect of the endogenous osteopontin expression on macrophage function has been sparsely studied. To shed light on the importance of the endogenous osteopontin expression, RAW 264.7 macr
A streamlined strategy was developed to obtain a mixture of thapsigargins from the fruits of Thapsia garganica L. The mixture was resolved by RP-silica gel flash chromatography to provide, after trituration with ether, 0.32% thapsigargin (la) as a white powder. A novel, complex phenylpropanoid (neohelmanthicin D, 2a) was also obtained, and its structure confirmed by semisynthesis.
The magnetism of square lattices of quantum dots with up to 12 electrons per dot is studied using the spin-density functional formalism. At small values of the lattice constant, all lattices are nonmagnetic and gapless. When the lattice constant is increased, the shell structure of the single dots governs the magnetism of the lattice. At closed shells, the lattices are nonmagnetic and have a gap a
Primary graft failure after lung transplantation is a serious complication with high mortality. We present 2 cases of critical respiratory failure after lung transplantation treated with surface cooling to 32 degrees and 35 degrees C, respectively, as an adjunct to conventional intensive care. Both patients were discharged from the hospital in good clinical condition. Surface cooling may be an eff
For dealing with various societal problems, 'political'/'ethical'/'responsible' consumerism is often discussed as an effective democratic and participatory tool. However, political consumerism – along with its tools, such as product labelling – is often conceived and discussed in oversimplified ways. Instead, the tension between scientific complexity, knowledge uncertainty and a codified, standard
An ex vivo system for simultaneous detection of nitric oxide (NO) and L-glutamate using integrated dual 250 gin platinum disk electrodes modified individually with suitable sensing chemistries has been developed. One of the sensors was coated with an electrocatalytic layer of Ni tetrasulfonate phthalocyanine tetrasodium salt (Ni-TSPe) covered by second layer of Nation, which stabilises on the one
