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  • 1
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 213 (1967), S. 1132-1133 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Acid mucopolysaccharides in the urine of eight normal individuals of both sexes and various ages, four patients with gargoylism (Pfaundler-Hurler) and one pp-tient with polydystrophic oligophrenia (type Sanfilippo) were fractionated. The procedure included precipitation of urinary AMP material with ...
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  • 2
    ISSN: 1432-1440
    Keywords: Callus ; Osteoblast ; Collagen metabolism ; Osteocalcin ; Parathyroid hormone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We compared the expression of osteoblastic markers in cultured human cells isolated from fracture calluses of various histological states of development with that in cells from adult and fetal bone. Adult osteoblasts and all callus cells produced almost exclusively type I collagen, whereas fetal osteoblasts produced also considerable amounts of type III collagen in vitro. 1,25-Dihydroxyvitamin D3 induced the synthesis of osteocalcin in all bone and callus cells but to varying extents. Fetal bone cells and early-stage callus cells synthesized less than 10% the amount of osteocalcin produced by adult bone cells. Late-stage callus cells produced intermediate levels of osteocalcin. Fetal bone cells and early-stage callus cells responded to parathyroid hormone with a less pronounced increase in intracellular cAMP than did adult bone cells. Late-stage callus cells showed the best response to parathyroid hormone. The activity of alkaline phosphatase was highest in fetal bone cells. These observations show that cells isolated from fetal bone and from fracture callus tissues express a pattern of markers clearly relating them to the osteoblastic lineage. On the basis of the different patterns of osteoblastic markers expressed in vitro we conclude that functionally distinct subtypes of osteoblasts do exist in different mineralized tissues and at different developmental stages.
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 65 (1987), S. 719-726 
    ISSN: 1432-1440
    Keywords: Cushing's syndrome ; Adrenocortical tumors ; Urinary steroid profiles ; Screening
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The analysis of 24-h excretion profiles of urinary steroids in 18 patients suffering from Cushing's syndrome or adrenocortical tumors revealed typical patterns when compared to 37 healthy control persons, 24 patients with obesity, and 6 patients with hirsutism. The validation of eight criteria — increased excretion of free cortisol, 6β-hydroxycortisol, 20α-dihydrocortisol, 11β-hydroxyandrosterone, and 3β-hydroxy-5-en steroids, decreased ratio of tetrahydrocortisone (THE) to tetrahydrocortisol (THF), and increased ratios of THF to allotetrahydrocortisol (a-THF) and metabolites of androgens (AM) to metabolites of cortisol (CM) — afforded reliable detection of disorders in steroid biosynthesis. The analysis of urinary steroid profiles can therefore be recommended as a screening procedure in patients with clinical symptoms of disorders in steroid production and/or metabolism.
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  • 4
    ISSN: 1432-1440
    Keywords: Vitamin D metabolites ; Cerebrospinal fluid
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Samples of CSF and plasma were obtained simultaneously from 46 adult patients who had no endocrine disorders and were undergoing routine diagnostic lumbar puncture because of suspected or proved prolapse of a disc. Concentrations of 25-OHD, 24,25(OH)2D and 1,25(OH)2D were measured. The samples were purified by column chromatography and fractionated by HPLC. In the appropriate fractions the vitamin D metabolites were measured by PBA, and cytoreceptor assay. The results were as follows (median, range in brackets): 25-OHD in CSF 8.3 ng/ml (2.0–24.8), in plasma 14.5 ng/ml (7.0–36.0). 24,25(OH)2D in CSF 1.8 ng/ml (0.3–4.6) and 2.5 ng/ml (0.4–4.7) in plasma. 1.25(OH)2 D in CSF 25.0 pg/ml (2.2–39.0) and 31.0 pg/ml (10.1–55.0) in plasma. The correlations between plasma and CSF concentrations were as follows: 25-OHDr=0.479 (P〈0.001); 24,25(OH)2Dr=0.815 (P〈0.001) and for 1.25(OH)2Dr=0.497 (P〈0.001). Our findings showed vitamin D metabolites to be present in human CSF.
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 63 (1985), S. 419-422 
    ISSN: 1432-1440
    Keywords: Parathyroid hormone ; Pituitary ; Brain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We have studied the presence of immunoreactive parathyroid hormone (PTH) in the central nervous system and pituitary of sheep. The PTH concentrations were measured radioimmunologically by two different region-specific antibodies. We could demonstrate PTH in various areas of the brain, whole pituitary, parathyroid glands and plasma of 21 sheep. Measurable concentrations of the two different parathyroid regions (35–84 and 44–68 amino acids fragments) were found in all samples.
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  • 6
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Hirsutismus ; Androstandiol ; Androstandiolglukuronid ; Gaschromatographie ; Massenspektrometrie ; Key words Hirsutism ; Androstanediol ; Androstanediol glucuronide ; Gaschromatography ; Mass spectrometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Background: It is still controversial, whether the end metabolites of peripheral androgen metabolism, 5 α-androstane-3 α, 17 β-diol and 5 α-androstane-3 α, 17 β-diol glucuronide, represent biochemical markers of hirsutism. Furthermore, discrepant plasma concentrations have been reported in the literature. Method: Using stable isotope dilution/gas chromatography-mass spectrometry, the most specific method in steroid analysis, we investigated healthy females and patients with hirsutism of various etiology. Results: Generally, both androstanediol and androstanediol-glucuronide scattered much in hirsute patients. Patients with adrenal enzyme defects (3 β-hydroxysteroid-dehydrogenasedeficiency, 21-hydroxylase-deficiency) had elevated androstanediol and androstanediol-glucuronide. Hirsute Patients with hyperandrogenaemia but without adrenal enzyme deficiencies had normal androstanediol in 33 % and normal androstanediol-glucuronide in 24 % of cases. 54 % of patients with idiopathic hirsutism had normal androstanediol and 24 % had normal androstanediol-glucuronide. Conclusion: Our results show, that neither androstanediol nor androstanediol-glucuronide are consistently elevated in hirsutism and that both do not discriminate between the various causes of hirsutism.
    Notes: Zusammenfassung Hintergrund: Ob die Endmetaboliten des peripheren Androgenstoffwechsels, 5 α-Androstan-3 α, 17 β-diol und 5 α-Androstan-3 α, 17 β-diol-glukuronid, biochemische Marker bei Hirsutismus darstellen, wird kontrovers diskutiert. Über die Plasmakonzentrationen beider Parameter gibt es ferner erhebliche Diskrepanzen bei den in der Literatur berichteten Werten. Methode: Unter Einsatz von Isotopenverdünnungs-Gaschromatographie-Massenspektrometrie, dem Verfahren mit der höchsten Spezifität in der Steroidanalytik, untersuchten wir gesunde Mädchen und Frauen sowie Patientinnen mit Hirsutismus unterschiedlicher Ätiologie. Ergebnisse: Bei hirsuten Patientinnen streuten beide Parameter stark. Bei Patientinnen mit adrenalen androgenisierenden Enzymdefekten (3 β-Hydroxysteroiddehydrogenasemangel, 21-Hydroxylasemangel) waren sowohl Androstandiol als auch Androstandiolglukuronid erhöht. Hirsute Patientinnen mit Hyperandrogenämie ohne adrenalen Enzymdefekt wiesen in 33 % normales Androstandiol und in 24 % normales Androstandiolglukuronid auf. Patientinnen mit idiopathischem Hirsutismus hatten in 54 % Androstandiol- und in 30 % Androstandiolglukuronidkonzentrationen innerhalb des Streubereichs gesunder Mädchen und Frauen. Schlußfolgerungen: Unsere Ergebnisse zeigen, daß weder Androstandiol noch Androstandiolglukuronid in allen Fällen von Hirsutismus erhöht sind und daß beide Parameter nicht zwischen unterschiedlichen Formen des Hirsutismus diskriminieren.
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  • 7
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Müller-Strukturen ; Syndrom der persistierenden Müller-Strukturen ; Oviduktpersistenz ; Hernia uteri inguinalis masculina ; Key words Müllerian duct structures ; Persistent Müllerian duct syndrome ; Hernia uteri inguinalis masculina
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The persistent Müllerian duct syndrome is characterized by the presence of uterus, tubes and proximal vagina in patients with normally virilized genitalia and a 46,XY karyotype. The clinically typical constellation of inguinal hernia and contralateral cryptorchidism should therefore lead to a thorough sonographic evaluation of the abdomen. We report on 3 patients in whom the abnormalities were discovered during surgery for inguinal hernia or cryptorchidism. One patient underwent resection of the Müllerian structures. Histological examination showed resection of both vasa deferentia, which ran parallel to and within the lateral walls of the uterus. The gonadal biopsies of two patients evidenced degeneration of testicular tissue by showing a fifty percent reduction of spermatogonias. Discussion: Therapy of this syndrome consists in early bilateral orchidopexia, aiming at preservation of endocrine and reproductive testicular function and prevention of malignant degeneration. The integrity of the vasa deferentia should not be endangered during surgery.
    Notes: Zusammenfassung Das Syndrom der persistierenden Müller-Strukturen (SPMS) ist definiert durch den Nachweis von Müller-Strukturen (Tuben, Uterus, proximale Vagina) bei Patienten mit vollständig männlich differenziertem äußeren Genitale und normalem, männlichen Chromosomensatz. Bei typischer Klinik – gleichzeitiges Vorliegen von Leistenhernie und kontralateralem Kryptorchismus – sollte daher eine gründliche sonographische Untersuchung des Abdomens erfolgen. Wir berichten über 3 Patienten, bei denen im Rahmen einer Herniotomie oder Kryptorchismusoperation Müller-Strukturen gefunden wurden. Bei einem der Patienten erfolgte die Resektion der Müller-Strukturen. Die histologische Untersuchung zeigte, daß die Vasa deferentia unmittelbar lateral des Uterus verliefen und ebenfalls mitreseziert wurden. Bei den anderen Patienten unterblieb die Entfernung der Müller-Strukturen. Als Hinweis auf eine Degeneration testikulären Gewebes fanden wir bei 2 Patienten, deren Gonaden im Alter von 7 bzw. 13 Monaten biopsiert wurden, um ca. 50 % reduzierte Spermatogonienzahlen. Diskussion: Die Therapie des SPMS besteht in der frühzeitigen, beidseitigen Orchidopexie, um eine möglichst unbeeinträchtigte endokrine und generative Hodenfunktion zu gewährleisten und einer malignen Entartung vorzubeugen. Die Integrität der Vasa deferentia sollte bei der Operation nicht gefährdet werden.
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  • 8
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Ullrich-Turner-Syndrom ; STH-Mangel ; Insulinresistenz ; Hyperinsulinismus ; Gestörte Glukosetoleranz ; Key words Ullrich-Turner-syndrome ; GH deficiency ; Insulin resistance ; Hyperinsulinism ; Impaired glucose tolerance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Background: An increased incidence of diabetes mellitus in patients with hypersecretion of growth hormone (acromegaly, pituitary gigantism) is well known. In the present study, the effect of long-term growth hormone (GH) therapy on basal as well as stimulated blood glucose and insulin concentrations was studied in pediatric patients. Methods: During an oral glucose tolerance test, plasma glucose and insulin were measured every 30 minutes. 2 groups of patients were studied before and during GH therapy: 9 patients with complete or partial GH deficiency (mean age at initiation of therapy: 9.1 ± 1.0 years) as well as 11 girls with Turner syndrome (mean age: 10.8 ± 0.9 years). Results: A weekly dose of growth hormone of 12.8 ± 0.9 units/m2 did not increase blood glucose in patients with GH deficiency, all patients displayed normal glucose tolerance. In contrast, the integrated secretion of insulin during the OGT-test increased from 3.7 ± 0.8 U/l × min before therapy to 5.9 ± 0.6 after 1 year (p 〈 0.005; Wilcoxon). Hyperinsulinism was still present after 2 years of GH therapy (n = 7). In Ullrich-Turner patients, a significantly higher dose of growth hormone was used (mean: 22.4 ± 2.0 Units/m2× week). After 1 year of GH therapy, blood glucose 30 min after the ingestion of oral glucose had increased to 167 ± 6 mg/dl compared to 147 ± 7 mg/dl before GH administration (p = 0.05). One girl developed impaired glucose tolerance. Insulin secretion rose by more than 100 % (AUC for insulin before therapy: 4.1 ± 0.3 U/l × min, after 1 year of therapy: 9.5 ± 1.4). In 8 Ullrich-Turner girls, the OGT-test was repeated again after 3 years of GH therapy, insulin secretion continued to be clearly elevated (AUC: 10.8 ± 2.1 U/l × min). Conclusions: GH therapy for 1 year increases insulin release during the OGT-test by 59 % in patients with GH deficiency and by 131 % in Ullrich-Turner syndrome. This difference may be due to a higher dose, or due to a specific tendency for insulin resistance in girls with gonadal dysgenesis. The long-term consequences of hyperinsulinism (hypertension, cardiovascular risk) cannot be predicted in these patients and should be followed in prospective studies.
    Notes: Zusammenfassung Fragestellung: Das gehäufte Auftreten eines Diabetes bei Wachstumshormonüberproduktion (Akromegalie, hypophysärer Gigantismus) ist lange bekannt. Methode: Im oralen Glukosetoleranztest (OGT) wurden Blutzucker und Insulin alle 30 min bestimmt. Zwei Patientengruppen wurden untersucht: 9 Patienten mit komplettem oder partiellem STH-Mangel (Alter bei Therapiebeginn 9,1 ± 1,0 Jahre) sowie 11 Mädchen mit Ullrich-Turner-Syndrom (10,8 ± 0,9 Jahre). Ergebnisse: Bei den STH-Mangelpatienten zeigte sich unter einer wöchentlichen STH-Dosis von 12,8 ± 0,9 E/m2 (Mittelwert ± SEM) kein Anstieg des Blutzuckers, die Glukosetoleranz war stets normal. Dagegen stieg die integrierte Insulinsekretion während des OGT-Tests von 3,7 ± 0,8 U/l und min vor der Therapie auf 5,9 ± 0,6 nach 1 Jahr an (p 〈 0,005; Wilcoxon). Ullrich-Turner-Patientinnen erhielten eine deutlich höhere STH-Dosis (im Mittel 22,4 ± 2,0 E/m2 und Woche). Nach 1 Jahr STH-Therapie zeigte sich ein vermehrter Anstieg des Blutzuckers 30 min nach oraler Glukosegabe (167 ± 6 mg/dl versus 147 ± 7 vor STH-Therapie; p = 0,05), ein Mädchen entwickelte eine gestörte Glukosetoleranz. Die Insulinsekretion stieg auf mehr als das Doppelte an (Integral: 4,1 ± 0,3 U/l und min vor Therapie, 9,5 ± 1,4 nach 1 Jahr STH-Gabe; p 〈 0,001). Schlußfolgerungen: Eine STH-Therapie für 1 Jahr erhöht die Insulinsekretion im OGT-Test um 59 % bei Patienten mit STH-Mangel und um 131 % bei Ullrich-Turner-Syndrom. Langfristige Auswirkungen des Hyperinsulinismus (Hypertonie, kardiovaskuläres Risiko) sollten in prospektiven Studien verfolgt werden.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Annals of hematology 48 (1984), S. 387-390 
    ISSN: 1432-0584
    Keywords: Systemic lupus erythematosus ; Immunoglobulin therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two paediatric patients with systemic lupus erythematosus were treated with immunoglobulin G (IgG). In the first case treatment resulted in regression of the most acute symptoms and a long remission was achieved. In the second patient, who was treated during the chronic stage of the disease, there was no significant effect on the course of the SLE.
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  • 10
    ISSN: 1432-0428
    Keywords: Height ; weight ; obesity ; siblings ; genetic factors ; bone age
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Normal growth and development, as well as the prevention of overweight, are major goals in the treatment of paediatric patients with insulin-dependent diabetes mellitus (IDDM). We therefore evaluated longitudinally the anthropometric measurements of height and weight, as well as bone age, in an unselected group of 389 patients with IDDM treated at one institution. In order to identify genetic influences on these parameters, height and weight were determined in 186 unaffected siblings and 177 pairs of parents. At diagnosis, patients were slightly taller than average (median z score: +0.37). During the subsequent course of diabetes, age-adjusted heights decreased progressively for the first 9 years, catching up again after more than 10 years of diabetes. Bone ages were progressively retarded with increasing duration of diabetes. In 76 patients of 18 years or older, median z-score for height was +0.30, not different from their unaffected siblings (median z-score: +0.22). The correlation with midparental height was identical for diabetic and nondiabetic siblings (r=0.43). In contrast, children with diabetes were significantly heavier (z-score for weight: +0.74 compared to +0.34 in unaffected siblings; p〈0.002). Obesity developed primarily during and after puberty. We conclude that: 1) during the course of diabetes, longitudinal growth is temporarily reduced and maturation is delayed in children with diabetes compared to unaffected siblings. However, this effect of diabetes is transient and small compared to genetic influences on height in an individual child. 2) As a group, children with IDDM become significantly overweight, which is likely to increase the cardiovascular risk during adulthood.
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