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  • 1
    Electronic Resource
    Electronic Resource
    The effects of sevoflurane and desflurane in vitro on platelet–leukocyte adhesion in whole blood (2003)
    Oxford, UK : Blackwell Science Ltd
    Anaesthesia 58 (2003), S. 0 
    Details
    ISSN: 1365-2044
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary The interaction between platelets and leukocytes plays an important role in inflammatory and thrombotic processes. We investigated whether the volatile anaesthetics sevoflurane and desflurane alter the formation of platelet–leukocyte aggregates and the expression of P-selectin on platelets. Whole blood was incubated with 1 and 2 minimum alveolar concentration (MAC) sevoflurane or desflurane. Unstimulated and adenosine diphosphate, or thrombin receptor agonist peptide-6-stimulated samples were stained with flourochrome-conjugated antibodies. The formation of platelet–leukocyte conjugates and the expression of P-selectin on platelets were measured using flow cytometry. Sevoflurane was found to enhance the binding of platelets to lymphocytes, neutrophils and monocytes, it also increased the expression of P-selectin on platelets especially in the stimulated samples. Desflurane decreased the percentage of lymphocyte–platelet, neutrophil–platelet and monocyte–platelet conjugates principally in unstimulated samples. The results show that these two volatile anaesthetics have differing effects on the formation of platelet–leukocyte conjugates in vitro. Sevoflurane also enhanced the expression of P-selectin on platelets.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2044.2003.03076.x
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  • 2
    Electronic Resource
    Electronic Resource
    Analysis of Mnk, the Murine Homologue of the Locus for Menkes Disease, in Normal and Mottled (Mo) Mice
    Amsterdam : Elsevier
    Genomics 22 (1994), S. 27-35 
    Details
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1006/geno.1994.1341
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  • 3
    Electronic Resource
    Electronic Resource
    Variability in the role of the gasbladder in fish audition (2000)
    Springer
    Journal of comparative physiology 186 (2000), S. 435-445 
    Details
    ISSN: 1432-1351
    Keywords: Key words Fish ; Hearing ; Evoked potentials ; Ear ; Gasbladder
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The teleost gasbladder is believed to aid in fish audition by transferring pressure components of incoming sound to the inner ears. This idea is primarily based on both anatomical observations of the mechanical connection between the gasbladder and the ear, followed by physiological experiments by various researchers. The gasbladder movement has been modeled mathematically as a pulsating bubble. This study is extending the previous work on fish with a physical coupling of the gasbladder and ear by investigating hearing in two species (the blue gourami Trichogaster trichopterus, and the oyster toadfish Opsanus tau) without a mechanical linkage. An otophysan specialist (the goldfish Carassius auratus) with mechanical coupling, is used as the control. Audiograms were obtained with acoustically evoked potentials (e.g., auditory brainstem response) from intact fish and from the same individuals with their gasbladders deflated. In blue gourami and oyster toadfish, removal of gas did not significantly change thresholds, and evoked potentials had similar waveforms. In goldfish thresholds increased by 33–55 dB (frequency dependent) after deflation, and major changes in evoked potentials were observed. These results suggest that the gasbladder may not serve an auditory enhancement function in teleost fishes that lack mechanical coupling between the gasbladder and the inner ear.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003590050443
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  • 4
    Electronic Resource
    Electronic Resource
    Long-lasting synaptic inhibition and its transmitter in the snail Helix aspersa
    Amsterdam : Elsevier
    Comparative Biochemistry And Physiology 30 (1969), S. 1061-1064+IN5-IN6+1065-1074 
    Details
    ISSN: 0010-406X
    Keywords: Dopamine ; Helix aspersa ; ILD ; glutamate ; hyperpolarization ; inhibition ; inhibition of long duration ; nerve cells ; neurotransmitters ; snail neurones
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0010-406X(69)91044-5
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  • 5
    Electronic Resource
    Electronic Resource
    Variability in clinical expression of Menkes syndrome (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 132-135 
    Details
    ISSN: 1432-1076
    Keywords: Menkes syndrome ; Genetic heterogeneity ; Copper therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups:one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445920
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  • 6
    Electronic Resource
    Electronic Resource
    Clinical and biochemical consequences of copper-histidine therapy in Menkes disease (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 828-832 
    Details
    ISSN: 1432-1076
    Keywords: Menkes disease ; Copper treatment ; d-Penicillamine ; Dopamine-β-hydroxylase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Menkes disease (MD) is an X-linked recessively inherited neurodegenerative disorder of copper (Cu) metabolism leading to death in early childhood. Symptoms are attributed to deficient activity of Cu-dependent enzymes. Limited experience has been reported concerning clinical and biochemical consequences of parenteral treatment with copper-(histidine)2-complex (Cu-His) in MD. Cu-His was administered in a 13-week-old boy with MD by daily intramuscular injections. After 6 weeks of therapy, Cu and caeruloplasmin in serum and Cu in CSF were normalized. The excessive dopamine level in CSF was corrected after 3 months of treatment. After 6 weeks of Cu supplementation, complete reduction of epileptic discharges, improved muscular tone and increased motor activities were observed. Developmental regression stopped and was replaced by a slight progression. Death at the age of 19 months was caused by septicaemia due to a fulminant urinary tract infection; there was no evidence of chronic Cu toxicity. These findings suggest that Cu-His supplementation may be a promising palliative treatment in MD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02073380
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  • 7
    Electronic Resource
    Electronic Resource
    Incidence of Menkes disease (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 408-410 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976–87. Considering live-born Menkes patients, the combined incidence for these five countries is 1 Menkes patient per 298000 live-born babies. If the number of affected aborted fetuses are taken into account, the incidence is 1 Menkes per 254000 live-born babies. This incidence, which is 2–4 times lower than earlier published incidence figures, places Menkes disease as an extremely rare disease. The mutation rate for Menkes disease is estimated to be 1.96 × 10−6, based on the number of isolated Menkes cases born during the time period 1976–87 and the total number of newborn males during this time.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201846
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  • 8
    Electronic Resource
    Electronic Resource
    Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2 (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 668-672 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary During a systematic chromosomal survey of 167 unrelated boys with the X-linked recessive Menkes disease (MIM 309400), a unique rearrangement of the X chromosome was detected, involving an insertion of the long arm segment Xq13.3-q21.2 into the short arm at band Xp11.4, giving the karyotype 46,XY,ins(X) (p11.4q13.3q21.2). The same rearranged X chromosome was present de novo in the subject's phenotypically normal mother, where it was preferentially inactivated. The restriction fragment length polymorphism and methylation patterns at DXS255 indicated that the rearrangement originated from the maternal grandfather. Together with a previously described X;autosomal translocation in a female Menkes patient, the present finding supports the localization of the Menkes locus (MNK) to Xq13, with a suggested fine mapping to sub-band Xq13.3. This localization is compatible with linkage data in both man and mouse. The chromosomal bend associated with the X-inactivation center (XIC) was present on the proximal long arm of the rearranged X chromosome, in line with a location of XIC proximal to MNK. Combined data suggest the following order: Xcen-XIST(XIC), DXS128-DXS171, DXS56-MNK-PGK1-Xqter.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02265295
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  • 9
    Electronic Resource
    Electronic Resource
    Investigation of the copper binding sites in the Menkes disease protein, ATP7A (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 195-198 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005331130245
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  • 10
    Electronic Resource
    Electronic Resource
    Menkes disease: Underlying genetic defect and new diagnostic possibilities (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 604-612 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these findings had important consequences from a clinical point of view. Today the underlying genetic defect has been described in several patients affected by one of the three hereditary disorders of copper metabolism: Menkes disease, occipital horn syndrome and Wilson disease. In this review we discuss mainly Menkes disease and the impact of the recent findings on the diagnosis of this disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005479307906
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