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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 408-410 
    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
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  • 2
    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
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 148 (1988), S. 132-135 
    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
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 828-832 
    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
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  • 5
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Comparative Biochemistry And Physiology 30 (1969), S. 1061-1064+IN5-IN6+1065-1074 
    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
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  • 6
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 7
    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
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European journal of plant pathology 92 (1986), S. 21-32 
    ISSN: 1573-8469
    Keywords: fungicide resistance ; fenpropimorph ; propiconazole ; triadimefon ; Erysiphe graminis f.sp.tritici
    Source: Springer Online Journal Archives 1860-2000
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Description / Table of Contents: Samenvatting Fungiciden die de ergosterolbiosynthese remmen worden in Nederland sinds 1978 gebruikt bij de bestrijding van tarwemeeldauw (Erysiphe graminis f. sp.tritici) Meeldauwpopulaties werden getoetst op hun variatie in gevoeligheid voor triadimefon van 1982 tot 1984. In 1982 bleken isolaten afkomstig uit de provincie Limburg, waar voordien triazolen werden toegepast, minder gevoelig te zijn voor triadimefon dan isolaten uit de provincies Gelderland en Noord-Brabant, waar nog geen triazolen werden gebruikt. In de daaropvolgende jaren werden isolaten met een verminderde gevoeligheid ook in laatstgenoemde provincies en in andere delen van het land gevonden. Deze uitbreiding is gecorreleerd met een toename in het gebruik van triazolen vanaf 1983 in areaal en frequentie. De afname in gevoeligheid kan geheel of gedeeltelijk verantwoordelijk zijn voor de verminderde meeldauwwerking van triazolen die gedurende deze jaren werd waargenomen. Kruisgevoeligheid werd vastgesteld voor de triazolen triadimefon en propiconazool, maar niet voor triazolen en het morfoline-derivaat fenpropimorf. De werking van dit middel was tegen alle isolaten uit Limburg die in 1984 werden getoetst, gelijk. De meeldauwwerking van fenpropimorf, dat in 1983 werd geïntroduceerd, was normaal. Aanbevolen wordt om verdere resistentie-ontwikkeling tegen te gaan door afwisselend gebruik van fenpropimorf vroeg in het groeiseizoen (mei) en een triazool aan het eind (juni-juli).
    Notes: Abstract Fungicides which inhibit ergosterol biosynthesis have been in use for control of wheat powdery mildew (Erysiphe graminis f. sp.tritici) in the Netherlands since 1978. Mildew populations were tested for their variation in sensitivity to triadimefon from 1982 to 1984. In 1982 isolates from the province Limburg, with a triazole spray-regime history, were less sensitive to triadimefon than isolates from the provinces Gelderland and Noord-Brabant, where triazoles had not been used. In the following years isolates with reduced sensitivity were also detected in the latter provinces and other parts of the country. This spread correlates with the increased use of triazoles, both in frequency and space, from 1983 onwards. The reduced sensitivity can as a whole or in part be responsible for the decline in field performance of triazoles, observed during these years. Cross-sensitivity to the triazoles triadimefon and propiconazole was established, but not to triazoles and the morpholine fungicide fenpropimorph. Effectiveness of the latter compound was similar to all isolates from Limburg tested in 1984. Field performance of fenpropimorph, introduced in 1983, appeared to be normal. It is recommended to counteract further development of resistance by sequential use of fenpropimorph early in the season (May) and triazoles at the end (June–July).
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of plant pathology 95 (1989), S. 123-127 
    ISSN: 1573-8469
    Keywords: Arachis hypogaea ; peanut mottle virus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Description / Table of Contents: Samenvatting Tijdens een inspectie in 1986 en 1987 in Zuid Sulawesi, West en Oost Java en West Sumatra werd in aardnoot (Arachis hypogaea) veelvuldig een ziekte aangetroffen, die opviel door donkergroene vlekkerigheid. De vlekken waren onregelmatig over de bladeren verspreid of kwamen voornamelijk voor rond de nerven. Soms waren de vlekken omgeven door een lichtgroene ring. Op grond van symptomen op toetsplanten, serologische verwantschap en elektronenmicroscopische eigenschappen werd geconcludeerd, dat deze ziekte veroorzaakt wordt door het ‘peanut stripe virus’. Dit virus is voor het eerst beschreven in 1984 in Amerika. Dit is de eerste officiële melding van het virus in Indonesië. Enkele eerder beschreven potyvirussen van aardnoot in Indonesië, ‘groundnut mottle-y’ en ‘peanut mottle virus’ (PMV) zijn waarschijnlijk ook PStV. De gelijkenis van de door PStV and ‘peanut mottle virus’ veroorzaakte symptomen heeft ervoor gezorgd dat de vlekkerigheid op aardnoot in Indonesië jarenlang aan PMV werd toegeschreven. Aangezien PStV veel schade veroorzaakt, wordt verder onderzoek gedaan aan de epidemiologie van dit virus, aan het oogstverlies en aan het toetsen van aardnootlijnen op resistentie.
    Notes: Abstract During a survey of groundnut in 1986 and 1987 in South Sulawesi, West and East Java and West Sumatra a disease was frequently observed which is characterized by the presence of green blotches. These blotches were either randomly distributed over the entire leaflets or concentrated along the veins; sometimes they were surrounded by light green rings. On the basis of test plant studies, serology and electron microscopy it was concluded that the causal agent of the disease is peanut stripe virus (PStV). This virus has been described for the first time in the USA in 1984. Some potyviruses described earlier in Indonesia, viz. groundnut mottle-y and peanut mottle virus (PMV) probably are also PStV. The similarity of symptoms caused by PStV and peanut mottle virus was the reason why blotching on groundnut in Indonesia was ascribed for many years to PMV. As PStV causes severe yield losses, further research is being done on the epidemiology of the virus, on yield loss assesment and on testing breeding lines of groundnut for resistance.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Intensivmedizin und Notfallmedizin 36 (1999), S. 635-639 
    ISSN: 1435-1420
    Keywords: Key words Acute renal failure ; uremic encephalopathy ; emergency medicine ; benign prostatic hypertrophy ; Schlüsselwörter Akutes Nierenversagen ; urämische Enzephalopathie ; Notfallmedizin ; benigne Prostatahypertrophie
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Unklare Bewußtseinsstörungen sind ein häufiger Alarmierungsgrund für den Notarzt. So wurde auch im vorliegenden Fall eines 71-jährigen Patienten mit einer plötzlichen Bewußtseinstrübung der Notarzt gerufen. Als Auslöser der Bewußtseinsstörung fand sich eine urämische Enzephalopathie bei akutem Nierenversagen. Der Patient wurde auf die internistische Intensivstation aufgenommen und in den folgenden zwei Tagen dreimal hämodialysiert. Danach stabilisierte sich die Nierenfunktion. Als Ursache des renalen Versagens fand sich eine Hydronephrose bei Prostataadenom, die drei Wochen später transurethral reseziert wurde. Die Kasuistik zeigt, daß bei unklaren Bewußtseinsstörungen im Notarztdienst auch seltene metabolische Krankheitsbilder differentialdiagnostisch zu berücksichtigen sind.
    Notes: Summary Neurocognitive disorders are often the reason to call for an emergency physician. We report on a 71 year old male patient who showed a sudden sensorial clouding caused by an uremic encephalopathy. The patient was admitted to the intensive car unit. During the following two days he underwent three emergency hemodialysis sessions until renal function recovered. Further investigations revealed as hydronephrosis secondary to a benign prostatic hypertrophy as the cause of acute renal failure
    Type of Medium: Electronic Resource
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