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  • 1
    Abstract: The diagnosis of hematologic malignancies relies on multidisciplinary workflows involving morphology, flow cytometry, cytogenetic, and molecular genetic analyses. Advances in cancer genomics have identified numerous recurrent mutations with clear prognostic and/or therapeutic significance to different cancers. In myeloid malignancies, there is a clinical imperative to test for such mutations in mainstream diagnosis; however, progress toward this has been slow and piecemeal. Here we describe Karyogene, an integrated targeted resequencing/analytical platform that detects nucleotide substitutions, insertions/deletions, chromosomal translocations, copy number abnormalities, and zygosity changes in a single assay. We validate the approach against 62 acute myeloid leukemia, 50 myelodysplastic syndrome, and 40 blood DNA samples from individuals without evidence of clonal blood disorders. We demonstrate robust detection of sequence changes in 49 genes, including difficult-to-detect mutations such as FLT3 internal-tandem and mixed-lineage leukemia (MLL) partial-tandem duplications, and clinically significant chromosomal rearrangements including MLL translocations to known and unknown partners, identifying the novel fusion gene MLL-DIAPH2 in the process. Additionally, we identify most significant chromosomal gains and losses, and several copy neutral loss-of-heterozygosity mutations at a genome-wide level, including previously unreported changes such as homozygosity for DNMT3A R882 mutations. Karyogene represents a dependable genomic diagnosis platform for translational research and for the clinical management of myeloid malignancies, which can be readily adapted for use in other cancers.
    Type of Publication: Journal article published
    PubMed ID: 27121471
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  • 2
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Journal of Magnetism and Magnetic Materials 15-18 (1980), S. 915-916 
    ISSN: 0304-8853
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Physics
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-2218
    Keywords: Cholelithiasis ; Choledocholithiasis ; Cholecystectomy ; Laparoscopy ; ERCP ; Endoscopic sphincterotomy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary After performing selectively 25 laparoscopic cholecystectomies (LC) to determine the place of LC in the management of complicated gallstones, all patients presenting with gallstones were evaluated by the authors for LC. Eighty-six consecutive patients were evaluated and 84 were studied. Follow-up in every case exceeded 6 months. In three of 10 patients with acute cholecystitis, LC was not possible; each had a history longer than 48 h and all had gangrene of the gallbladder. In four patients with empyema, LC was successful, but operative cholangiography failed. Operative cholangiography was successful in 76 of the remaining 77. Of eight patients suspected of having stones in the CBD, cholangiography excluded stones in six and confirmed them in two. Cholangiography identified three other patients with totally unsuspected CBD stones. Of the five patients with CBD stones, four had them flushed to the duodenum at LC following transcystic balloon dilatation of the papilla and one had a post-op. ERCP. Of four patients with acute pancreatitis, three had LC in the same admission. LC was possible in all three patients with morbid obesity. We conclude that with experience, LC is possible for complicated gallstones. In acute cholecystitis, the probability of success is higher with earlier operative intervention. Operative cholangiography is essential. It not only identifies unsuspected CBD stones but also allows LC without ERCP in those with suspected CBD stones and with modification it allows treatment of those stones.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1420-9098
    Keywords: Attraction ; sexual pheromone ; Formica lugubris ; ant ; mating communication
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Sexuals ofFormica lugubris fly to mating places, where females attract males by using a sex pheromone. Females collected on the nest surface before departing on a mating flight are much less attractive than those collected on the mating place after the mating flight, suggesting that the mating flight triggers the release of the sex pheromone. Olfactory cues are essential for males to locate females while they patrol. Males probably use visual cues to locate females once they have alighted nearby them. Males are also attracted by aggregations of other males on the ground, probably because one or several females are likely to be close to male aggregations.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1420-9098
    Keywords: Key words: Queen rearing, social behavior, Apis mellifera, reproduction, polygyny.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary: The requeening process was investigated under emergency conditions in honey bee colonies (Apis mellifera L.). The progression of queen cell construction was closely monitored after removal of the mother queen, and the newly-emerged queens were measured for several physical traits to quantify their reproductive potential (= quality). The results suggest that workers regulate the queen rearing process by differentially constructing cells. Workers built different numbers of queens cells from different ages of brood and non-randomly destroyed over half (53%) of the initiated cells before their emergence. For those queens whose cells were not torn down, the variation in reproductive quality was limited, varying only slightly among age groups for queen size. Several hypotheses are discussed which might explain the adaptive benefit of worker regulation during queen rearing.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Insectes sociaux 30 (1983), S. 443-454 
    ISSN: 1420-9098
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Description / Table of Contents: Resume Lorsque des reines vierges de la fourmi de feu sont soustraites à l'influence de la phéromone inhibitrice produite par la reine, elles perdent leurs ailes plus facilement en présence d'ouvrières qu'en leur absence. Lorsqu'elles sont isolées pendant 72 heures après la levée de l'inhibition, un nombre significativement plus grand de reines vierges ayant hiverné perdent leurs ailes, par rapport aux reines vierges élevées au printemps. Toutefois, les nombres d'individus perdant leurs ailes en présence d'ouvrières sont similaires. Après désinhibition, quelques reines vierges immatures perdent leurs ailes. Les sexués vierges désailés sont capables de prévenir la perte des ailes chez d'autres sexués vierges. Les divers facteurs influençant la déalation chez les reines vierges ont été utilisés afin de développer un essai biologique pour la phéromone inhibitrice produite par la reine deS. invicta.
    Notes: Summary Virgin queens of the fire ant,Solenopsis invicta Buren, that were removed from the influence of the inhibitory queen pheromone, dealated more readily in the presence of workers than in their absence. During 72 hours after disinhibition, a significantly greater number of overwintered virgin queens than spring-reared virgin queens dealated when they were isolated, but the numbers that dealated in the presence of workers were very similar. Some sexually immature virgin queens dealated after disinhibition. Virgin dealates were found to be capable of preventing other virgin queens from dealating. The various factors that influence dealation by virgin queens were used to develop a bioassay for the inhibitory queen pheromone ofS. invicta.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1440-1681
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: 1. Calcitonin gene-related peptide (CGRP) is a potent vaso-active 37 amino acid peptide, typically elevated in plasma from patients with medullary thyroid cancer (MTC), but undetectable in the plasma of normal subjects.2. The kidney is a major site for the clearance of exogenously infused CGRP but the intrarenal site of this clearance is unknown. Extra-organ clearance is also significant for CGRP, and whereas the site and mechanism of this degradation remain uncertain, the vasculature has been postulated as the most likely site.3. The isolated perfused rat kidney (IPRK) was studied to (i) localize the intrarenal site of CGRP clearance and (ii) determine the contribution of the renal vasculature to the clearance of CGRP. The half-life of CGRP in the filtering IPRK was 63.9 ± 4.5 min, whereas blocking of filtration by elevation of the perfusate osmolarity abolished the degradation. This suggests that (i) renal CGRP degradation occurs after glomerular filtration with intratubular metabolism and (ii) that there is no active CGRP degradation in the (glomerular) capillary endothelium.4. These results do not support the theory that renal vascular endothelium plays a major active role in CGRP degradation.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    ISSN: 1432-0673
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics , Physics
    Notes: Abstract Noether's theorem on variational principles invariant under a group of infinitesimal transformations is used to obtain a class of conservation laws associated with linear elastodynamics. These laws represent dynamical generalizations of certain path-independent integrals in elastostatics which have been of considerable recent interest. It is shown that the conservation laws obtained here are the only ones obtainable by Noether's theorem from invariance under a reasonably general group of infinitesimal transformations.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Applied physics 60 (1995), S. 61-65 
    ISSN: 1432-0649
    Keywords: 32.00 ; 42.65 ; 82.50
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract A novel method for exciting the two-photon 2p 3 3p 3 P ←2p 4 3 P atomic oxygen transition is reported. The transition energy is provided by the combined photon energies of the second and third Stokes orders of a deuterium-filled Raman shifter pumped by an ArF-excimer laser. The ArF-excimer-pumped Raman shifter performance is characterized and the approach is demonstrated in an atomic oxygen population created by molecular oxygen absorption and predissociation in room air.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1420-908X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Kinetensin is a nonapeptide, originally isolated from pepsin-treated plasma, that shares some sequence homology with the C-teminal end of neurotensin. The present study was designed to determine, by infusing kinetensin to conscious sheep, the pharmacokinetics and a neurotensin-like biological activity (pancreatic polypeptide response) of kinetensin. Kinetensin was rapidly metabolized, approximately 200-fold more rapidly than neurotensin [1–13]. The majority of the metabolism occurred in the circulation as demonstrated bothin vivo andin vitro. The lung and gut cleared kinetensin also. Inhibition of converting enzyme, present in highest concentration in the lung, abolished lung clearance but was without effect on kinetensin metabolism by the gut or in the general circulation. Arterial infusion of kinetensin which achieved high blood kinetensin levels at the pancreas did not increase plasma pancreatic polypeptide. We conclude that the extremely rapid degradation of exogenous kinetensin, together with the lack of biological activity, makes it unlikely that kinetensin plays a role as a circulating regulatory peptide. Nevertheless, since the putative kinetensin substrate circulates at μM concentrations, it is feasible that kinetensin is generated and metabolized at the target organ.
    Type of Medium: Electronic Resource
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