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  • 1
    Electronic Resource
    Electronic Resource
    Marked Amine and Amine Metabolite Changes in Norrie Disease Patients with an X-Chromosomal Deletion Affecting Monoamine Oxidase (1990)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of neurochemistry 54 (1990), S. 0 
    Details
    ISSN: 1471-4159
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Urinary and plasma amines and amine metabolites were quantified in two individuals with Norrie disease resulting from a deletion in chromosomal region Xp 11.3, recently reported to be associated with absence of the gene encoding monoamine oxidase (MAO)-A and nondetectable MAO-A activity in fibroblasts and MAO-B activity in platelets. Marked (four- to 100-fold) elevations in levels of urinary phenylethylamine, o-tyramine, and m-tyramine (which are preferential substrates for MAO-B) and marked reductions (90%) in levels of 3-methoxy-4-hydroxyphenylglycol (a deaminated metabolite of norepinephrine, a preferential substrate for MAO-A) in urine and plasma confirmed the presence of a systemic, functionally significant reduction in the activities of both MAO isozymes. The magnitude of these changes, which are equivalent to those found in subjects taking MAO-inhibiting antidepressants, suggests that early initiation of dietary and drug restrictions may be clinically important in these and other patients with X-chromosomal mutations involving MAO. These findings further support the proposition that the MAOA and MAOB genes are located in close proximity on the X chromosome. Negligible changes in the metabolites of dopamine and serotonin raise the possibility that other metabolic pathways are of importance for their production, that dietary or intestinal bacterial sources contribute substantially to the presence of these amine metabolites in urine, or both.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-4159.1990.tb13307.x
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  • 2
    Electronic Resource
    Electronic Resource
    Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data (1988)
    Springer
    Pediatric nephrology 2 (1988), S. 296-302 
    Details
    ISSN: 1432-198X
    Keywords: Polycystic kidney disease ; Children ; Dominant ; Recessive ; Clinical features ; Laboratory studies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The clinical features and laboratory data of 93 children with polycystic kidney disease were analysed. Family studies showed that the disease was dominant (DPKD) in 17 and recessive (RPKD) in 32 of them. Of the remaining 44 sporadic patients, 1 was classified by histological and/or imaging findings as having DPKD, 41 as having RPKD and 2 could not be classified. The symptoms tended to be more severe in RPKD than in DPKD, but there was much overlap. Death in early life was common in RPKD (55/73) and more rare in DPKD (4/18). If a child with DPKD had disease manifest during the neonatal period, then siblings were usually affected in the neonatal period. Survival to adulthood was seen in both disease. In the patients who survived the neonatal period, hypertension was more common in RPKD (11/18) than in DPKD (4/14). Symptoms of portal hypertension were present in 2 patients with RPKD and none with DPKD. None of the laboratory investigations discriminated between the two entities. Glomerular filtration rate was diminished more often in RPKD (9/11) than in DPKD (2/8). Some difference was seen in the maximal urine concentrating ability; it was always reduced, ofter markedly, in RPKD but usually either normal or only moderately disturbed in DPKD. Studies on hepatic function and hepato-cellular damage were usually normal, but bacterial cholangitis was noted in some children with RPKD. The differential diagnosis between DPKD and RPKD needs to be based on the family history, family studies, radiological and/or histological features.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00858681
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  • 3
    Electronic Resource
    Electronic Resource
    Dominant and recessive polycystic kidney disease in children: Classification by intravenous pyelography, ultrasound, and computed tomography (1988)
    Springer
    Pediatric radiology 18 (1988), S. 45-50 
    Details
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Both dominant and recessive polycystic kidney disease appear in childhood. We have analyzed findings of intravenous pyelography, ultrasound and computed tomography in genetically classified cases of dominant (13 children) and recessive polycystic kidney disease (5 children) and thus defined criteria by which sporadic cases of childhood polycystic kidney disease can be classified to dominant or recessive polycystic kidney disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02395759
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  • 4
    Electronic Resource
    Electronic Resource
    The delivery of genetic counseling services in Europe (1980)
    Springer
    Human genetics 〈Berlin〉 56 (1980), S. 1-5 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Oranizational forms and the current status of genetic counseling within the health care system of 15 European countries were evaluated by questionnaire and at a symposium, with individuals present from Austria, Belgium, Czechoslovakia, Denmark, the Federal Republic of Germany, the German Democratic Republic, Finland, France, Hungary, Italy, the Netherlands, Norway, Switzerland, the United Kingdom, and the Soviet Union. In spite of wide differences between these countries, certain similarities with respect to the delivery of genetic counseling services could be observed: (i) most genetic counseling is done within university institutions or closely linked to it; (ii) governmental support of genetic counseling is developing slowly, and genetic counseling is usually not yet fully integrated into the health care system; (iii) there is lack of qualified personnel; (iv) no guide lines for formal education have been developed, but a postgraduate training period of no less than four years is considered a minimum; (v) without appropriate support, genetic counseling is a burden for research in human genetics; yet, a strict separation of genetic counseling and research activities is not recommended; (vi) on the average, a team providing genetic counseling for about 1–2 million people should consist of 3–4 physicians, 5–10 technicians, 2–3 secretaries, and other supportive personnel.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00281565
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  • 5
    Electronic Resource
    Electronic Resource
    Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase (1991)
    Springer
    Journal of neural transmission 83 (1991), S. 1-12 
    Details
    ISSN: 1435-1463
    Keywords: Benzylamine ; dopamine ; serotonin ; genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two individuals with an X-chromosomal deletion were recently found to lack the genes encoding monoamine oxidase type A (MAO-A) and MAO-B. This abnormality was associated with almost total (90%) reductions in the oxidatively deaminated urinary metabolites of the MAO-A substrate, norepinephrine, and with marked (100-fold) increases in an MAO-B substrate, phenylethylamine, confirming systemic functional consequences of the genetic enzyme deficiency. However, urinary concentrations of the deaminated metabolites of dopamine and serotonin (5-HT) were essentially normal. To investigate other deaminating systems besides MAO-A and MAO-B that might produce these metabolites of dopamine and 5-HT, we examined plasma amine oxidase (AO) activity in these two patients and two additional patients with the same X-chromosomal deletion. Normal plasma AO activity was found in all four Norrie disease-deletion patients, in four patients with classic Norrie disease without a chromosomal deletion, and in family members of patients from both groups. Marked plasma amine metabolite abnormalities and essentially absent platelet MAO-B activity were found in all four Norrie disease-deletion patients, but in none of the other subjects in the two comparison groups. These results indicate that plasma AO is encoded by gene(s) independent of those for MAO-A and MAO-B, and raise the possibility that plasma AO, and perhaps the closely related tissue AO, benzylamine oxidase, as well as other atypical AOs or MAOs encoded independently from MAO-A and MAO-B may contribute to the oxidative deamination of dopamine and 5-HT in humans.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01244447
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