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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 552-556 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have developed a simple rapid DNA screening test that allows us simultaneously to analyze seven CF mutations (deltaF508, R347P, S549N, G551D, R553X, R334W, 444delA) that together account for about 60% of all CF mutations in the Italian population. It consists of three steps: multiplex polymerase chain reaction (PCR) amplification of exons 4, 7, 10 and 11; restriction endonuclease digestion of the PCR products; and vertical polyacrylamide gel electrophoresis analysis. We have used our multiplex assay for analyzing 15 CF chromosomes (non delta F508) and have found 3 cases of the R553X mutation; the latter have been confirmed by amplification and digestion of exon 11.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The authors report the results of a genetic analysis performed in 34 neurofibromatosis type 1 (NF1) Italian families using five loci tightly linked to NF1: D17S33, D17S82, D17S83, D17S37, and D17S36. A twopoint linkage analysis was performed with the LINKAGE and the CRI-MAP programs. The map of the region was contructed using the MAP90 program. Data from the present study lend further support to evidence that all NF1 mutations are allelic and that the NF1 locus resides in the proximal region of chromosome 17q. Close linkage of NF1 to all the markers was found. Two of them, namely D17S82 and D17S83, showed the highest linkage with a value of 0 recombination frequency and lod scores of 3.77 and 4.02, respectively. The best map found is D17S33-D17S82-NF1-D17S83-D17S37-D17S36. The authors stress that knowledge of precise order is essential; if D17S82 and D17S83 are proved to flank the NF1 gene, they allow an acceptable presymptomatic diagnosis in informative families.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1523-5378
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background. The aims of our study were twofold. First, we sought to evaluate in symptomatic children the influence of the Helicobacter pylori genotype on gastritis, abdominal pain, and circulating anti–H. pylori IgG antibodies (anti–H. pylori IgG) or pepsinogen A (PGA) and C (PGC). Additionally, we sought to assess anti–H. pylori IgG, PGA, and PGC patterns in a large cohort (N = 921) of asymptomatic children.Materials and Methods. In 183 symptomatic children, H. pylori infection and the presence of gastritis were evaluated by histology. In a subgroup of 20 H. pylori–positive children, the H. pylori genotype was evaluated also by polymerase chain reaction. Nine hundred and twenty-one asymptomatic children, aged 11 to 14 years, were studied by anti–H. pylori IgG, PGA, and PGC serum determination.Results. The infection was found in 33 of 183 symptomatic children; among the 20 H. pylori–positive children for which the H. pylori genotype was available, cagA was present or absent in equal percentages. H. pylori infection was associated with more severe gastritis and higher serum levels of anti–H. pylori IgG and PGC but not with abdominal pain. In infected children, higher levels of anti–H. pylori IgG and the presence of abdominal pain were associated with infections caused by cagA-positive strains. In the cohort of 921 asymptomatic children, raised levels of anti–H. pylori IgG, PGA, and PGC were found in approximately 5% of the cases.Conclusions. Infection with cagA-positive H. pylori strains can be associated with increased frequency of reported abdominal pain and higher circulating levels of anti–H. pylori IgG. The serological assessment of H. pylori IgG using H. pylori antigens containing significant amounts of cagA protein may, therefore, underestimate the true prevalence of infection.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1460-9592
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background:  The efficacy of the Neonatal Resuscitation Program (NRP) courses was previously evaluated, demonstrating good retention of knowledge in the participants. However, there is a lack of information regarding the participants’ performance in relation to the different steps of neonatal resuscitation. We aimed to assess the knowledge gained and retained by pediatric residents who participated in a NRP course in relation to the different steps.Methods:  An 80-item questionnaire derived from the standard test contained in the American Heart Association and American Academy of Pediatrics Neonatal Resuscitation Manual was given to 25 pediatric residents before, immediately after and 6 months after the course.Results:  The percentages of correct answers significantly improved from before (37.6 ± 3.1%) to immediately after the course (94.1 ± 0.9%) (P 〈 0.001). The percentages at the 6 months follow-up test (62.7 ± 2.2%) significantly decreased from posttest (P 〈 0.001), but remained significantly higher with respect to pretest performance (P 〈 0.001). The percentages of correct answers were different among the four neonatal resuscitation steps during the entire study (pretest, posttest and follow-up test).Conclusions:  The knowledge gained by pediatric residents participating in the NRP course was very high, but was only partially retained over time. In particular, it was different among the four steps of neonatal resuscitation suggesting further studies on teaching resuscitation.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-198X
    Keywords: Haemodialysis ; Anaemia ; Exercise testing ; Recombinant human erythropoietin ; Rehabilitation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The aim of this study was to evaluate the effect of correction of chronic anaemia on the physical performance and the cardiovascular response to effort in children with end-stage renal disease (ESRD) maintained by haemodialysis. Seven patients (mean age 13.9 years) underwent triangular-type treadmill exercise testing before [haemoglobin (Hb) 6.3±0.9 g/dl] and after (Hb 11.2±1.2 g/dl) anaemia correction with recombinant human erythropoietin (rHuEPO). After treatment, the work-load reached, the peak oxygen uptake and average ventilatory anaerobic threshold (VAT) values were significantly increased (P〈0.01,P〈0.001,P〈0.05 respectively). VAT values, expressed as a percentage of normal values, increased from 55.7±16.6% to 82.4±21%. This improvement correlated well with the increase in Hb (r=0.79). Oxygen pulse also increased significantly, when tested after anacmia correction. In conclusion, these data demonstrate that when the anaemia of children with ESRD is corrected with rHuEPO, there is a clear improvement in acrobic work capacity and effort tolerance.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 0306-042X
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: A novel application of Collisionally Activated Decomposition Mass analysed Ion Kinetic Energy (CAD MIKE) spectrometry to separation and positive structural identification of urinary methylmalonic acid (MMA) (the pathognomonic compound for the diagnosis of methylmalonic acidurias) is presented.CAD MIKES scans of EI ionic species at m/z 119 ([M + H]+) and m/z 101 ([M - OH]+) have been obtained from a pure standard of MMA and from crude urinary acid fractions.With reference to the procedures employed so far, the advantages of the proposed method lie in fast and simplified sample pretreatment and in a quick non-controversial response to a clinical suspicion of serious, life-threatening inherited metabolic diseases.
    Additional Material: 6 Ill.
    Type of Medium: Electronic Resource
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