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  • 1
    Electronic Resource
    Electronic Resource
    Follow-up of “non-diabetic” relatives of diabetics by retesting oral glucose tolerance after 5 years (1975)
    Springer
    Diabetologia 11 (1975), S. 451-456 
    Details
    ISSN: 1432-0428
    Keywords: Follow-up studies ; glucose-tolerance tests ; subclinical diabetes ; remission of diabetes ; genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Of 743 first degree relatives of diabetics in whom oral glucose tolerance tests had been performed in 1967 488 were re-tested in 1972. Among the original “normals” (n = 353) 17.6% had developed a “subclinical” and 1.3% an “overt diabetes” within 5 years. The original “subclinical diabetics” (n = 118) showed a remission to “normal” in 35.6% and a progression to “overt diabetes” in 13.6%. 3 out of the 17 formerly “overt diabetics” were found to be “normal” after 5 years and 3 were “subclinical diabetics”. Thus the performance of an oral glucose tolerance test is of limited prognostic value in the individual case. In both studies a higher prevalence of abnormal test results occurred in the older age groups and in overweight subjects. Remission or deterioration did not depend, however, on age or on weight changes. The frequency of abnormal tests was higher in males than in females, but the tendency towards the development of diabetes was more pronounced in females, in accordance with a previous observation of a higher age dependance of glucose tolerance in females.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00429915
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  • 2
    Electronic Resource
    Electronic Resource
    HLA-typing in juvenile diabetics with and without positive family history and in families with one and two diabetic siblings (1978)
    Springer
    Diabetologia 15 (1978), S. 447-451 
    Details
    ISSN: 1432-0428
    Keywords: Juvenile diabetes ; HLA ; family history ; heterogeneity ; genetics ; haplotype concordance ; negative selection ; recombination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary HLA-typing was performed in two groups of juvenile-onset diabetics, one with (n = 58) and one without (n = 109) a family history of the disease. The association of this type of diabetes with certain HLA antigens (excess of B8 and B15, shortage of B7) was confirmed. No heterogeneiteis could be established between the two groups. This suggests that the aetiologic basis in single and familial cases of juvenile diabetes is the same. The hypothesis, that the B8 associated gene is more penetrant than the B15 associated gene, cannot be confirmed. Haplo-types were determined in families with one and two diabetic siblings. The findings of high haplotype concordance among diabetic siblings was confirmed: concordance of 2, 1 and 0 haplotypes in 7, 5 and 3 pairs respectively. There was a low degree of haplotype concordance between diabetics and non-affected siblings in the families with two diabetics: 2, 1, and 0 haplotypes in 2, 8 and 6 pairs respectively. This led to the hypothesis of negative selection against these HLA-linked “diabetogenic” genes. This tendency was not, however, observed in families with only one diabetic. The report of a high recombination rate in families with juvenile diabetics could not be confirmed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02342868
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  • 3
    Electronic Resource
    Electronic Resource
    Diabetes mellitus: A new look at diagnostic criteria (1979)
    Springer
    Diabetologia 17 (1979), S. 263-264 
    Details
    ISSN: 1432-0428
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01235864
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  • 4
    Electronic Resource
    Electronic Resource
    The chlorpropamide alcohol flush (1980)
    Springer
    Diabetologia 19 (1980), S. 359-363 
    Details
    ISSN: 1432-0428
    Keywords: Chlorpropamide alcohol flush ; non-insulin dependent diabetes ; insulin dependent diabetes ; MODY ; genetics ; HLA-types
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A facial flush provoked by alcohol in chlorpropamide treated diabetics has been described as a genetic marker for a dominantly inherited type of non-insulin dependent diabetes. In this study a chlorpropamide alcohol flush was observed in 16.9% of control subjects (n=154), 23.3% of insulin dependent diabetics (n=437) and 16.5% of patients with non-insulin dependent diabetes (n= 145). Among the non-insulin dependent diabetics no difference in the frequency of the chlorpropamide alcohol flush was found between those with and without a family history of diabetes. Specificity was not improved by skin temperature measurement or additional placebo tests. According to these data the chlorpropamide alcohol flush does not seem to be specific for non-insulin dependent diabetes and hypotheses about the aetiology of this type of diabetes based on the chlorpropamide alcohol flush should be regarded with caution.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00280521
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  • 5
    Electronic Resource
    Electronic Resource
    Untersuchungen zur Genetik des Diabetes mellitus. Eine geeignete Methode zur Durchführung von Alterskorrekturen (1969)
    Springer
    Diabetologia 5 (1969), S. 392-396 
    Details
    ISSN: 1432-0428
    Keywords: Juvenile-onset diabetes ; growth-onset diabetes ; genetics ; dominant inheritance ; multifactorial inheritance ; genetic heterogeneity ; relatives of diabetics ; frequency of diabetes ; age correction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé L'auteur indique une méthode, déjà décrite par Strömgren, pour la correction de l'âge, qui peut être appliquée aux investigations génétiques de maladies qui apparaissent à des âges variés. L'avantage principal, par comparaison avec la méthode souvent employée de ≪excess morbidity≫, est le fait qu'il n'est pas nécessaire d'avoir des groupes témoins. La méthode a été appliquée à l'étude de la génétique du diabète sucré. Il a été trouvé que la fréquence du diabète juvénile parmi les frères et soeurs de diabétiques juvéniles est environ 25 fois plus élevée que parmi les frères et soeurs de diabétiques âgés. On doit donc conclure qu'il existe une hétérogénéité génétique entre le diabète juvénile et le diabète d'âge mûr. On n'a pas trouvé de différence significative entre la fréquence du diabète parmi les frères et soeurs et les enfants des diabétiques d'âge mûr. Cette observation parle en faveur d'une transmission essentiellement dominante de ce type de diabète.
    Abstract: Zusammenfassung Es wird auf eine von Strömgren angegebene Methode zur Durchführung von Alterskorrekturen hingewiesen, die bei genetischen Untersuchungen von Krankheiten mit variierendem Erkrankungsalter Anwendung findet. Der wesentliche Vorteil gegenüber der häufig angewandten Methode der „excess morbidity”-Berechnung liegt darin, daß keine Untersuchungen von Kontrollgruppen erforderlich sind. Bei Anwendung der Methode auf Untersuchungen zur Genetik des Diabetes mellitus fand sich, daß juveniler Diabetes unter den Geschwistern von juvenilen Diabetikern ca. 25mal so häufig vorkommt wie unter den Geschwistern von Altersdiabetikern. Es besteht also eine genetische Heterogenität zwischen juvenilem Diabetes und Altersdiabetes. Zwischen der Diabeteshäufigkeit bei Geschwistern und Kindern von Altersdiabetikern besteht kein signifikanter Unterschied. Dieser Befund spricht für überwiegend dominante Vererbung des Altersdiabetes.
    Notes: Summary A method for age correction, first described by Strömgren, and which can be applied to genetic investigations of diseases with varying age of onset, has been applied to an investigation of the genetics of diabetes mellitus. The main advantage compared with the often used method of “excess morbidity” is the fact that no investigation of control groups is necessary. It was found that the frequency of juvenile-onset diabetes among the siblings of juvenile-onset diabetics was about 25 times higher than that among the siblings of growth-onset diabetics. It must be concluded that there is genetic heterogeneity between juvenile and growth-onset diabetes. No significant difference could be found between the frequency of diabetes among siblings and that among the children of growthonset diabetics. This observation speaks in favour of preponderantly dominant inheritance of this type of diabetes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00427977
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  • 6
    Electronic Resource
    Electronic Resource
    Studies on the genetic heterogeneity of diabetes mellitus (1971)
    Springer
    Diabetologia 7 (1971), S. 46-49 
    Details
    ISSN: 1432-0428
    Keywords: Adult-onset diabetes ; genetics ; multifactorial inheritance ; genetic heterogeneity ; frequency of diabetes ; relatives of diabetics ; overweight ; multiparity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Chez 552 diabétiques de l'âge adulte, la fréquence du diabète parmi les frères et soeurs a été calculée en utilisant une correction de l'âge. Les frères et soeurs des diabétiques ont 25.8% de chance de devenir diabétiques jusqu'à l'âge de 85 ans. Les frères et soeurs des diabétiques ayant un fort excédent de poids et des femmes diabétiques ayant eu beaucoup de grossesses ont une chance significativement plus faible de devenir diabétiques que les frères et soeurs de diabétiques sans excédent de poids et avec peu ou pas de grossesses. On trouve cette relation seulement chez les diabétiques ayant un traitement oral ou diététique, mais non chez les diabétiques traités par l'insuline. A partir de ces observations on peut conclure que l'hétérogénéité génétique existe entre les diabétiques avec et sans besoin en insuline, et en outre, à l'intérieur du groupe non traité par l'insuline entre les diabétiques avec et sans facteurs pathogénétiques supplémentaires, tels que l'excédent de poids et la multiparité.
    Abstract: Zusammenfassung Bei 552 Diabetikern mit einem Erkrankungsalter von 25 und mehr Jahren wurde mit Hilfe einer Alterskorrektur die Häufigkeit von Diabetes unter den Geschwistern berechnet. Die Geschwister haben die Chance von 25,8% bis zum 85. Lebensjahr an Diabetes zu erkranken. Diabetiker mit starkem Übergewicht und Diabetikerinnen mit einer großen Kinderzahl haben eine deutlich geringere Geschwisterbelastung als Diabetiker ohne Übergewicht und ohne oder mit wenigen Kindern. Ein solcher Zusammenhang findet sich jedoch nur bei oral oder diätetisch behandelten Diabetikern, nicht bei insulinbedürftigen. Hieraus wird auf eine genetische Heterogenität zwischen insulinbedürftigen und nicht insulinbedürftigen Diabetikern und innerhalb der zweiten Gruppe zwischen solchen mit und ohne zusätzliche pathogenetische Faktoren wie Übergewicht oder große Geburtenzahl geschlossen.
    Notes: Summary In 552 adult-onset diabetics the frequency of diabetes among the brothers and sisters was calculated employing an age correction. The siblings of diabetics have a chance of 25.8% of becoming diabetic up to the age of 85 years. Siblings of those diabetics with a high degree of overweight and of female diabetics with many pregnancies have a significantly lower chance of becoming diabetic than siblings of diabetics without overweigth and with no or few pregnancies. This relationship is only found in diabetics with oral or dietetic therapy, but not in diabetics with insulin therapy. From these observations it can be concluded that genetic heterogeneity exists between diabetics with and without the need of insulin, and, further, within the group of non-insulin-treated diabetics between those with and without additionl pathogenetic factors, such as overweight or multiparity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02346253
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  • 7
    Electronic Resource
    Electronic Resource
    Prevalence of diabetes among children of insulin-dependent diabetic mothers (1980)
    Springer
    Diabetologia 18 (1980), S. 459-462 
    Details
    ISSN: 1432-0428
    Keywords: Insulin-dependent diabetes ; MODY ; familial diabetes ; genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Eight diabetics were found among 464 children, mean age 11.2 years, of 311 unselected insulin-treated mothers. By a method of age correction the total diabetes prevalence among the children at the age of 25 years was calculated as 3.4%. Three children were non-insulin dependent and these patients and their mothers may belong to the autosomal dominant type of diabetes, so-called MODY. In two of the other five families the fathers also had insulin-dependent diabetes; in two more cases first or second degree paternal relatives were insulin-dependent diabetics. Thus the prevalence of insulin-dependent diabetes among the children of insulin dependent mothers married to non-diabetics is calculated as 1.5% at the age of 25 years.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00261701
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  • 8
    Electronic Resource
    Electronic Resource
    „Transsexualismus“ bei testiculärer Feminisierung (1972)
    Springer
    Journal of molecular medicine 50 (1972), S. 696-701 
    Details
    ISSN: 1432-1440
    Keywords: Testicular feminization ; Male pseudohermaphroditism ; Transsexualism ; Gender role ; Testiculäre Feminisierung ; Pseudohermaphroditismus masculinus ; Transsexualismus ; Geschlechtsrolle
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über einen Fall von testiculärer Feminisierung berichtet. Patient erstrebt Geschlechtsumwandlung, nachdem er bis zum 3. Jahr als Mädchen, dann als Junge aufgezogen wurde und unter seinen überwiegend weiblichen sekundären Geschlechtsmerkmalen leidet. Körperlich sind hervorzuheben: Männliches Kerngeschlecht, Leistenhoden mit normal entwickelten Leydig-Zellen, überwiegend weibliches äußeres Genitale mit fehlenden inneren Genitalorganen, Klitorishypertrophie, Mammae-Entwicklung zur Zeit der Pubertät, fehlende Bart- und Axillarbehaarung, Genitalbehaarung vom weiblichen Typ. Die endokrinologische Untersuchung ergab: Hoch normale Gonadotropinwerte, für Männer hoch normale Plasmatestosteronwerte, leichter Anstieg des Testosteron auf HCG, kein Anstieg auf ACTH, niedrig normale Östrogenwerte. Wenn testiculäre Feminisierung mit Klitorishyperplasie und anderen maskulinen Zeichen verbunden ist, können psychosexuelle Probleme auftreten. Ein deutlich transsexuelles Begehren ist aber auch bei diesen „unvollständigen“ Fällen testiculärer Feminisierung bisher nicht berichtet worden. Unsere Beobachtung verweist auf die Bedeutung der genital sichtbaren Intersexualität für die Bestimmung des Geschlechts nach der Geburt und für die Übernahme der Geschlechtsrolle durch den Heranwachsenden.
    Notes: Summary A case of testicular feminization is described. The patient, brought up as a girl up to the age of three years, then as a boy, suffers from his predominantly female sex characteristics and requests sex reversal. Physical examination: male nuclear sex, inguinal testes with normally developed Leydig cells, predominantly female external genitalia without internal genitalia, hypertrophy of the clitoris, development of mammae at time of puberty, pubic hair of the female type, no facial or axillary hair. Endocrinologic findings: high normal gnoadotrophins, plasma testosterone in the upper normal range for males, slight increase of testosterone after injection of HCG, no increase after ACTH, low normal oestrogene. In cases of testicular feminization with hypertrophy of the clitoris and other signs of masculinization, psycho-sexual problems often arise. Transsexualism has not yet been described even in the incomplete syndrome. Our observation points to the importance of visible signs of intersexuality for the determination of the sex after birth and for the acceptance of the gender role in childhood and adolescence.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01495528
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  • 9
    Electronic Resource
    Electronic Resource
    The predictive factor — a method to simplify Bayes' formula and its application to diagnostic procedures (1984)
    Springer
    Journal of molecular medicine 62 (1984), S. 586-592 
    Details
    ISSN: 1432-1440
    Keywords: Predictive value ; Prevalence ; Sensitivity ; Specificity ; Bayes's formula ; Likelihood ratio
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary According to Bayes' rule the predictive value (PV) of a diagnostic test (= probability of disease if the test is positive) depends on the prevalence of the disease (= a priori probability), the sensitivity (c 1) and the specificity (c 2) of the test. A new variable has been introduced, the predictive factor (c), which is calculated as follows:c=c 1/(c 1+1−c 2). Since the PV only depends on this factor and on the prevalence, the calculation is much easier and a general graphical solution is possible. This simplification renders several additional advantages and facilitates the understanding of the dependence of PV on prevalence.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01728177
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  • 10
    Electronic Resource
    Electronic Resource
    Empirische Untersuchung zur Einschätzung diagnostischer Verfahren am Beispiel des Haemoccult-Tests (1986)
    Springer
    Journal of molecular medicine 64 (1986), S. 1106-1112 
    Details
    ISSN: 1432-1440
    Keywords: Diagnostic test ; Mass screening ; Occult blood ; Colonic neoplasms
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We offered a questionnaire to 52 physicians in order to study the appreciation of the fecal occult blood test as an example of a diagnostic procedure. We asked for an indication of the over-all appreciation of the test, and for an estimation of the probabilities of colorectal cancer before the test and with a positive or a negative test result — each of them for three situations with different a priori probabilities. The answers demonstrated that the estimated value of the test, representing the personal experience of the physicians is very low (predictive factor between 0.61 and 0.78). About half of the physicians' estimations showed no improvement of probability by using Haemoccult. This contrasts with the expressed very positive general opinion about Haemoccult testing, including its use in symptomatic patients. This result underlines the necessity of careful evaluation of diagnostic tests.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01726870
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