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Purpose: To determine if mutations in the retinal transcription factor gene NRL are associated with retinopathies other than autosomal dominant retinitis pigmentosa (adRP). Methods: Genomic DNA was isolated from blood samples obtained from 50 patients with Leber Congenital Amaurosis (LCA), 17 patients with the Enhanced S-Cone Syndrome (ESCS), and a patient with an atypical retinal degeneration tha

Photon-echo-relaxation measurements made on the 3H4-3P0 transition of 0.01 at. % Pr3+:YAG (where YAG represents yttrium aluminum garnet), 3H4-1D2 transition in 0.1 at. % Pr3+:YAlO3, and 7F0-5D0 transition in 0.25 at. % Eu3+:YAlO3 show that the photon-echo relaxation rate increases when the intensities of the excitation pulses are increased. Although a part of the relaxation-rate increase in Pr3+:Y

Second- and third-generation cephalosporins, notably cefotetan, are increasingly implicated in severe, sometimes fatal immunemediated hemolytic anemia. We describe a 26-year-old woman who developed severe hemolytic anemia 2 weeks after receiving a single prophylactic dose of cefotetan during cesarean delivery. The patient's DAT was weakly reactive for IgG and her serum reacted with cefotetan-coate

Gastrointestinal stromal tumors (GISTs), the most common mesenchymal tumors of the digestive tract, are believed to arise from the interstitial cells of Cajal. GISTs are characterized by mutations in the proto-oncogene KIT that lead to constitutive activation of its tyrosine kinase activity. The tyrosine kinase inhibitor STI571, active against the BCR-ABL fusion protein in chronic myeloid leukemia

Popular Abstract in Swedish Påverkan av faktor V Leiden-mutationen på risk för utveckling av neovaskulära komplikationer efter centralvenstrombos studerades. Hos patienter med mutationen var risken nästan tre gånger högre att utveckla neovaskulära komplikationer än hos patienter utan mutationen. Synnervssvullnad , som nyligen har presenterats som en indikator på god prognos vid centralvenstrombosThe influence of the factor V Leiden mutation on the development of neovascular complications in central retinal vein occlusion was studied. The presence of the mutation was found to enhance the risk of developing neovascular complications almost threefold compared to in patients without the mutation. Optic nerve head swelling, which recently has been presented as an indicator of good prognosis i

To investigate how the relation between the control time and the total amount of water varies with the water application rate at manual fire fighting operations, six different experimental fire test series were studied. In spite of being quite different, the experiments prove to give similar results. Plotting the total volume of water required against the application rate, gives a diagram in the s

A measurement of direct photons in p+p collisions at root s=200 GeV is presented. A photon excess above background from pi(0)->gamma+gamma, eta ->gamma+gamma and other decays is observed in the transverse momentum range 5.5 < p(T)< 7 GeV/c. The result is compared to a next-to-leading-order perturbative QCD calculation. Within errors, good agreement is found between the QCD calculation and the meas

The instantaneous response models the rapid part of the interaction between electromagnetic fields and materials. From a physical point of view the instantaneous response is non-observable and from a mathematical point of view it constitutes the principal part of the Maxwell equations. In this paper, it is shown that the instantaneous response is not uniquely determined from a given set of values

Oscillator strengths for 57 U II lines in the region 3500-6700 Åhave been derived by combining new branching fraction measurements withrecently measured lifetimes. The lines combine six upper levels withnumerous low levels having excitation energies of 0-1.5 eV. The datainclude the U II line at 3859 Å, which is used forcosmochronology.

Real-time ultrasound was used in 654 consecutive pregnancies to obtain standard growth parameters for the fetal brain. Measurement of the width of the lateral ventricle (LVW) and hemisphere and their relationships to menstrual age, biparietal diameter, and birth weight were determined. The growth of the LVW was to a great extent independent of birth weight but dependent on menstrual age. Thirteen

Subcutaneous metastases from an oesophageal carcinoma were irradiated using different schedules. The results have to be evaluated with greatest caution but indicate that with the same CRE value, few fractions caused less skin reactions than several, and the size of the shoulder of the cell survival curve was of the order of 0.7 Gy.

Both the antibody affinity and the detectability of the label are essential in deciding the final characteristics of a heterogeneous immunoassay. This paper describes an approach to obtain a supplementary enhancement of the signal generated by using an enzyme label, e.g., by including the product of the enzymatic reaction in an additional amplification cycle during the detection step performed wit