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  • 1
    Electronic Resource
    Electronic Resource
    Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA (1992)
    Springer
    Human genetics 〈Berlin〉 90 (1992), S. 12-16 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Direct cDNA sequencing has been performed on asymmetrically amplified transcripts from the human porphobilinogen deaminase gene. Lymphocytes from 30 patients with acute intermittent porphyria were the source of mRNA; of the seven separate point mutations detected, three were silent, whereas four resulted in amino acid changes. Three of these changes involved highly conserved amino acids, and the remaining one a conserved charge. One of these mutations was predicted to cause structural alterations in the protein product. The application of this method to affected families allows the direct identification of these heterogeneous mutations, thus permitting the unequivocal detection of carriers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210738
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  • 2
    Electronic Resource
    Electronic Resource
    Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 619-622 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Direct cDNA sequencing was performed on asymmetrically amplified transcripts from the porphobilinogen deaminase (PBG-D) gene of thirteen unrelated individuals with acute intermittent porphyria. Four different mutations and a polymorphic site were detected in exon 12 of the gene, four being the result of single base substitutions and one being caused by dinucleotide deletion. All of these mutations are located in domain 3 of the PBG-D molecule, with the single base substitutions affecting the hydrophobic interfaces between domains 1 and 3. The dinucleotide deletion results in a frame-shift producing a premature stop codon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00420949
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  • 3
    Electronic Resource
    Electronic Resource
    Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism (1993)
    Springer
    Human genetics 〈Berlin〉 91 (1993), S. 576-578 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Chester porphyria is a distinct type of acute porphyria, which shows a biochemical overlap with acute intermittent and variegate porphyrias and has a dual enzyme deficiency of porphobilinogen deaminase (PBGD) and protoporphyrinogen oxidase. Linkage analysis in an extensive family with Chester porphyria was undertaken using multiple polymorphic markers. A maximum two point Lod score of 5.25 at 0.07 recombination (confidence interval 0.01 to 0.14) was observed with D11S351, which has been localised to 11q23.1. Multipoint linkage analysis confirmed the two point results and gave a maximum Lod score of 7.33 at a distance less than 1 cM proximal to D11S351. PBGD also maps to 11q but four recombinants could be identified from ten informative meioses in this family using a PBGD DNA polymorphism. Thus, a separate locus on 11q appears to be the basis of Chester porphyria.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00205083
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  • 4
    Electronic Resource
    Electronic Resource
    The effects of ethanol and lead, alone and in combination, on the severity of arrhythmias induced by coronary artery occlusion, and by noradrenaline, in anaesthetised rats (1986)
    Springer
    Archives of toxicology 59 (1986), S. 56-60 
    Details
    ISSN: 1432-0738
    Keywords: Ethanol ; Lead ; Ischaemia ; Induced arrhythmias ; Rat
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The aim of this study was to investigate whether chronic (3 or 10 months) administration, via the dinking water, of lead (25 ppm) and/or ethanol (25% v/v) altered the susceptibility of the heart to arrhythmias induced either by coronary artery occlusion or noradrenaline infusion in pentobarbitone-anaesthetised male Sprague-Dawley rats. The cardiac effects of acute intravenous infusions of ethanol (17, 33 and 66 mg kg−1 min−1) were also measured. Chronic exposure to ethanol and/or lead in the drinking water had no marked effect on the severity of arrhythmias occurring within the initial 30 min of coronary artery occlusion. In control rats and in those administered ethanol and/or lead for 10 months, noradrenaline (16 μg kg−1 min−1 given IV 1 h post-occlusion for a 15-min period) induced a similar number of ectopic beats during the infusion period, although these arrhythmias persisted beyond the infusion period in treated animals only. There was a significant accummulation of lead in the bone but not in the blood of lead-treated rats. Blood ethanol concentrations varied considerably between animals, ranging from 0 to 319 mg%. Ethanol (66 mg kg−1 min−1) given acutely and yielding a blood concentration of 174 mg % had a slight antiarrhythmic effect in this model.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00263959
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  • 5
    Electronic Resource
    Electronic Resource
    The effects of chronic carbamazepine treatment on haem biosynthesis in man and rat (1988)
    Springer
    European journal of clinical pharmacology 35 (1988), S. 241-247 
    Details
    ISSN: 1432-1041
    Keywords: carbamazepine ; porphyria ; epilepsy ; haem biosynthesis ; enzyme induction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary The anticonvulsant drug carbamazepine has been reported to produce a condition clinically and biochemically similar to acute intermittent porphyria (AIP). We have determined the effect of chronic carbamazepine treatment on the activities of the enzymes of haem biosynthesis in circulating blood cells and on the urinary excretion of porphyrins and their precursors in 53 epileptic patients receiving monotherapy and in 42 age- and sex-matched controls. In the patients the mean activity of leucocyte 5-aminolaevulinic acid (ALA) synthase, the rate-limiting enzyme of the pathway, was 218% of control values (p〈0.001) and ALA-dehydratase activity was reduced by 37% (p〈0.001). Circulating carbamazepine concentrations correlated negatively with ALA dehydratase (r s=−0.45;p〈0.01). Porphobilinogen deaminase and uroporphyrinogen decarboxylase appeared unaffected by carbamazepine treatment. Significant quantitative increases in the urinary excretion of porphobilinogen and total porphyrins (bothp〈0.05) accompanied the changes in enzyme activity. Similar dose-dependent effects on ALA synthase and ALA dehydratase were shown to occur in rats treated for 5 days with 3 different doses of carbamazepine. These findings further support the porphyrinogenicity of carbamazepine, but the pattern of enzyme alteration differs from that found in AIP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00558260
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  • 6
    Electronic Resource
    Electronic Resource
    The effects of industrial lead poisoning on cytochrome P450 mediated phenazone (antipyrine) hydroxylation (1977)
    Springer
    European journal of clinical pharmacology 12 (1977), S. 235-239 
    Details
    ISSN: 1432-1041
    Keywords: phenazone ; lead ; haem biosynthesis ; cytochrome P450 ; saliva
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary In a group of ten male adults admitted to hospital with clinical symptoms of lead exposure, phenazone elimination rates, blood δ-amino-laevulinic acid dehydratase (ALA.D) activity, blood lead levels and haemoglobin were measured. Investigations were carried out before, immediately after and again at least 12 weeks after cessation of CaEDTA (sodium calcium edetate) chelation therapy. Following chelation, phenazone elimination rates were increased as assessed by a decrease in half life and increase in clearance. This was significant, both immediately after and 12 weeks after cessation of chelation therapy. The change in rate of phenazone metabolism was associated with improved clinical status, with lowered blood lead levels and raised haemoglobin and ALA.D activity. The results of the study suggest that the depression in phenazone elimination in lead intoxication is possibly due to depressed hepatic cytochrome P450 levels.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00609867
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  • 7
    Electronic Resource
    Electronic Resource
    The development of neurosurgical techniques: The postoperative notes and sketches of Dr. Harvey Cushing (1989)
    Springer
    Acta neurochirurgica 101 (1989), S. 93-99 
    Details
    ISSN: 0942-0940
    Keywords: Harvey Cushing ; medical history ; medical illustration ; neurosurgical techniques
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In the early development of American neurosurgical techniques, Harvey Cushing is often considered the founding father. As an accomplished artist and prolific writer his original operative sketches and detailed notes at the Peter Bent Brigham Hospital (1912–1932) are now being explored as early documentation of this pioneering surgeon's development of a field. We present four brain tumor cases with his unpublished sketches and direct quotations to illustrate both the trials and tribulations of those times and Cushing's innate surgical genius.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01410521
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  • 8
    Electronic Resource
    Electronic Resource
    Some pharmacological effects of δ-aminolaevulinic acid on blood pressure in the rat and on rabbit isolated ear arteries (1975)
    Oxford, UK : Blackwell Publishing Ltd
    Clinical and experimental pharmacology and physiology 2 (1975), S. 0 
    Details
    ISSN: 1440-1681
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: 1. The effects of δ-aminolaevulinic acid (ALA) have been examined on the blood pressure of anaesthetized rats and pithed rats and on the perfusion pressure in isolated preparations of the rabbit ear artery.2. ALA has a hypotensive effect in both anaesthetized and pithed rats.3. In anaesthetized rats, the hypotensive response was produced with either continuous infusion or single injections of ALA, and was not blocked by hexamethonium, propanolol, phentolamine, atropine or mepyramine.4. In the pithed rat, ALA had no effect on the pressor response to nicotine.5. The hypotensive response to ALA could be counteracted by the pressor effect of adrenaline or noradrenaline. In pithed rats, the pressor response of vasopressin was reduced by ALA.6. Vasoconstrictor response of the isolated perfused rabbit ear artery to noradrenaline and sympathetic nerve stimulation were usually not affected by ALA, but in a few experiments they were increased. ALA produced an increase in perfusion pressure in a few experiments.7. Since ALA appears to cause an increase in capillary permeability, it is probable that the hypotensive effect is associated with capillary dilatation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1440-1681.1975.tb01844.x
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  • 9
    Electronic Resource
    Electronic Resource
    Correlation between interface nitrogen and the fixed charge in thermally nitrided silicon dioxide on silicon (1990)
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 68 (1990), S. 4662-4666 
    Details
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Silicon dioxide layers of 250 A(ring) thick were grown on Si at 1000 °C in a dry O2/TCA ambient. Thermal nitridation of the samples was performed in a pure ammonia ambient at temperatures from 900 to 1100 °C with one hour time intervals up to a maximum of 4 h. The fixed charge state densities at the interface of the samples were determined from high frequency C-V measurements, and the breakdown fields from I-V curves. Secondary ion mass spectroscopy depth profiles show low levels of contaminants, and high levels of nitrogen at the interface for samples annealed at temperature greater than or equal to 1000 °C and for periods longer than 2 h. Post metal annealing of the nitrided samples appears to help in reducing the trapped charges. Better quality films with lower Qf and VFB shifts, and higher breakdown fields were achieved for samples annealed at 1100 °C. Metal-oxide-semiconductor device quality nitrided films with a Qf of 1010/cm2 were achieved by optimizing the process conditions at 1100 °C. The fixed charge build up for lower nitridation temperatures (〈1000 °C) and times (〈2 h)is due to the dissociation of Si—O bonds in the presence of hydrogen, and is in accordance with the earlier results in the literature. However, the reduction in the fixed charge buildup at 1100 °C, we believe, is due to the increased levels of nitrogen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.346177
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  • 10
    Electronic Resource
    Electronic Resource
    PREGNANCY AND THE ACUTE PORPHYRIAS (1977)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 84 (1977), S. 0 
    Details
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: An analysis is presented of the obstetric histories of 50 women with acute porphyria, comprising 39 with acute intermittent porphyria, 3 with variegate porphyria and 8 with hereditary coproporphyria. Fifty-four per cent of the women with acute intermittent porphyria had an acute attack of porphyria in pregnancy and/or the puerperium. Only one maternal death was recorded. One patient with variegate porphyria and two with hereditary coproporphyria had an attack related to pregnancy. The total fetal wastage was 13 per cent. The babies born to mothers with acute intermittent porphyria, who experienced an acute attack during pregnancy, were smaller than those in which no such attack occurred (P〈0·001). In 13 non-porphyric primigravidae there was a rise in urinary excretion of 8-aminolaevulinic acid, porphobilinogen and coproporphyrin up to the 28th week of gestation. It is probable that pregnancy has some deleterious effects in acute porphyria but the prognosis of the porphyric pregnancy is much better than the literature suggests.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-0528.1977.tb12480.x
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