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  • 1
    Abstract: Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P=2.55 x 10(-11)), 6p25.2 (rs73718779, SERPINB6, P=1.97 x 10(-8)) and 3q28 (rs9815073, LPP, P=3.62 x 10(-8)), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P=1.00 x 10(-11)) in the combined analysis. We find suggestive evidence (P〈5 x 10(-7)) for two additional new loci at 4q24 (rs10028805, BANK1, P=7.19 x 10(-8)) and 3p22.2 (rs1274963, CSRNP1, P=2.12 x 10(-7)). Pathway analyses of new and known CLL loci consistently show a strong role for apoptosis, providing further evidence for the importance of this biological pathway in CLL susceptibility.
    Type of Publication: Journal article published
    PubMed ID: 26956414
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  • 2
    ISSN: 1432-1084
    Keywords: Key words: Rectum – Neoplasms – MR imaging – Ultrasonography – Comparative studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. The aim of this study was to compare MR imaging and endoscopic ultrasonography (EUS) for the local staging of rectal tumours. Forty-nine patients were examined on a 1.5-T MR unit using either a pelvic phased-array coil (n = 37) alone or combined with an endorectal coil (n = 12). Sagittal and axial sequences with T2-weighted fast spin-echo and axial T1-weighted spin-echo techniques were employed. The EUS technique was performed using a flexible endosonoscope. The results were compared with findings at histopathological sectioning of the specimen. The T-stage on MR correlated with histopathology in 32 of 49 patients and on EUS in 29 of 49 patients. The N-stage on MR correlated with histopathology in 22 of 49 patients and on EUS in 26 of 49 patients. Tumour penetration of the rectal wall was predicted by MR with 86 % sensitivity and 65 % specificity, and by EUS with 89 % sensitivity and 33 % specificity. Preoperative radiotherapy was administered to 40 of the patients after the examinations which may explain some of the overstaging by MR and EUS. Three patients with surgically and histopathologically confirmed invasion of neighbouring organs in the pelvis were detected preoperatively on MR but none on EUS. Tumour penetration of the rectal wall and local lymph node metastases cannot accurately be predicted with MR or EUS. Magnetic resonance, however, seems to be more useful for preoperative identification of clinically occult advanced disease.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-2218
    Keywords: Doppler ; Dilated cystic veins ; Cirrhosis ; Gallstones ; Portal vein thrombosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary High-resolution duplex ultrasound was used to demonstrate vascular dilatation in the gallbladder wall in eight patients with portal vein thrombosis. Gallbladder thickening, combined with a higher incidence of gallstone disease in patients with chronic hepatic disease can be misinterpreted as acute cholecystitis. The Doppler is helpful in detecting the vascular cause of the gallbladder wall thickening thus helping to reduce the frequency of inappropriate cholecystectomy.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-2307
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Sechzehn Leberbiopsien wurden untersucht. Der sinusoidale Pol der Leberzellen zeigt Strukturänderungen mit/oder teilweisem Verlust der Mikrovilli, die Kupfferschen Sternzellen weisen Hypertrophie und Hyperplasie auf. Diese Befunde sprechen für das Vorkommen von einem oder mehreren Toxinen. Vollständige celluläre Nekrose wurde nicht oft gefunden, was mit den niedrigen Serum-Transaminase-Werten bei dieser Krankheit übereinstimmt. Die Gallencapillaren zeigen Formveränderung bis Zerstörung der Mikrovilli, ein unspezifischer Befund der sowohl bei extraals auch intrahepatischen Formen der Cholestase gesehen wird. Es wurde keine Erklärung für den Ikterus von Leptospirosekranken gefunden.
    Notes: Summary Sixteen human liver biopsies of patients with leptospirosis were studied both by light and electron microscopy. The sinusoidal pole of the liver cell show distortion and/or partial disappearence of the microvilli. There is hypertrophy and hyperplasia of Kupffer's cells. These data are suggestive of one or more circulating toxins. Complete cell necrosis is not prominent in human leptospirosis, this finding being in accordance with the low level of serum transaminase seen in the disease. Bile capillaries show microvilli disappearence or distortion, a non specific finding seen both in the extra and intrahepatic forms of cholestasis. No explanation for jaundice mechanism in leptospirosis was found.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-2218
    Keywords: Key words: Laparoscopy — Common bile duct exploration — Choledochotomy — Biliary stent
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background: One hundred eighty-one patients were submitted to laparoscopic common bile duct exploration. Methods: A transcystic approach was used in 147 patients, choledochotomy in 14, and both in 20. The indications to perform a choledochotomy included stones larger than 20 mm, stones proximal to the cystic duct entrance, and cases in which the transcystic duct approach proved impossible or unsuccessful. Results: The common bile duct was drained by a T-tube in four patients, by laparoscopic sphincterotomy in one, by laparoscopic choledochoduodenostomy in one, and by a 10 Fr endoprosthesis in 28. The stent placement was technically feasible in all patients but one. The biliary drainage was adequate. Mean hospital stay was 2.1 days. Complication was limited to one umbilical infection and one self-limited biliary leak. Conclusions: The procedure proved to be technically simple, safe, and efficient, and resulted in a low morbidity rate and short hospital stay.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-2242
    Keywords: Key words Vitis ; Portuguese grapevines ; Germplasm management ; Genotyping ; Microsatellites
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract  To initiate the characterization of the Portuguese grapevine genepool, we have genotyped 49 Portuguese grapevine cultivars at 11 microsatellite loci. The markers proved to be informative in the Portuguese cultivars, with expected heterozygosity ranging from 0.67 to 0.84. At most loci, an excess of heterozygous individuals was observed, while the deficiency of heterozygotes at 1 locus (VVMD6) indicated the presence of null alleles. On the basis of the microsatellite allele data several previously assumed synonyms were verified: (1) ’Fernão Pires’=’Maria Gomes’, (2) ’Moscatel de Setúbal’=’Muscat of Alexandria’, (3) ’Boal Cachudo’=’Boal da Madeira’=’Malvasia Fina’, (4) ’Síria’=’Crato Branco’= ’Roupeiro’ and (5) ’Periquita’=’Castelão Francês’=’João de Santarém’=’Trincadeira’. Although the three varieties ’Verdelho da Madeira’, ’Verdelho dos Açores’, and ’Verdelho roxo’ are regarded by the Lista Nacional de Sinónimos as distinct cultivars, they displayed identical SSR profiles at 17 loci and appear to represent types of 1 single cultivar. The genetic profiles of all 49 cultivars were searched for possible parent-offspring groups. The data obtained revealed the descendence of ’Boal Ratinho’ from ’Malvasia Fina’ and ’Síria’.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1365-2621
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Process Engineering, Biotechnology, Nutrition Technology
    Notes: Summary When immersed in milk, breakfast cereal easily take up moisture, lose their brittle texture and become soggy. Earlier comparative analysis of the moisture sorption by breakfast cereal immersed in water and milk indicated that milk solids might play an important role on the sorption kinetics. In this work, the moisture uptake by ready-to-eat corn breakfast cereal immersed in milk solutions, reconstituted from whole and skimmed milk powder, was measured under isothermal conditions at 5, 30 and 55 °C. Dilutions between 0.25 and 1.5 were tested, with the factor of dilution 1 corresponding to the standard recommended by the milk powder manufacturer. The Weibull probabilistic model adequately fitted the experimental data by appropriate choice of its variable parameters. The dependence of the model parameters on temperature and total solids concentration was assessed for both skimmed and whole milk. Fat was found to play a major role on the process mechanism, which was attributed to the deposition of a fat layer at the solid matrix surface, hindering water and solids uptake. Yet, for short times, moisture uptake proceeded at a similar rate both in skimmed and whole milk.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1434-6052
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract. We show the role played by QCD evolution and skewedness effects in the DVCS cross section at large Q 2 within the color dipole description of the process at photon level. The dipole cross section is given by the saturation model, which can be improved by DGLAP evolution at high photon virtualities. We investigate both possibilities as well as the off-forward effect through a simple phenomenological parameterization. The results are compared to the recent ZEUS DVCS data.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1434-6052
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract. We calculate the nuclear inclusive and diffractive cross sections for heavy quark photoproduction within a phenomenological saturation approach. The nuclear cross section is obtained by the extension of the saturation model through the Glauber-Gribov formalism. We predict large nuclear heavy quark cross sections at LHC energies.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    The European physical journal 21 (2004), S. 145-153 
    ISSN: 1434-601X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract. We perform an adjustment to the most recent structure function data, considering the QCD dipole picture applied to the ep scattering. The structure function F 2 at small x and intermediate Q 2 can be described by the model containing an economical number of free parameters, which encodes the hard-pomeron physics. The structure function F L and the gluon distribution are predicted without further adjustments. The data description is remarkably good, however giving a rather low value for the fixed strong-coupling constant. This indicates that a resummed next-to-leading-level analysis should be done, which would bring it to suitable values.
    Type of Medium: Electronic Resource
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