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  • 1
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  Süddeutscher Kongress für Kinder- und Jugendmedizin; 64. Jahrestagung der Süddeutschen Gesellschaft für Kinder- und Jugendmedizin gemeinsam mit der Süddeutschen Gesellschaft für Kinderchirurgie und dem Berufsverband der Kinder- und Jugendärzte e.V. - Landesverband Bayern; 20150508-20150509; Nürnberg; DOC15sgkjP15 /20150325/
    Publication Date: 2015-03-26
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 2
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-2072
    Keywords: Zimelidine ; ACTH ; Metyrapone ; Corticosteroids
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Plasma ACTH levels after oral ingestion of 2 g metyrapone at 24.00 hours in six healthy subjects were higher after pretreatment with zimelidine (300 mg) in comparison to placebo. Since zimelidine is a relatively selective serotonin reuptake inhibitor its action on hypothalamic-pituitaryadrenal (HPA) activity suggests that serotonin is a potent stimulator of ACTH release. The ratio of cortisol to 11-deoxycortisol was taken as a measure of 11-hydroxylase activity, which indicates biological activity of secreted ACTH. These cortisol/11-deoxycortisol ratios were significantly increased after zimelidine treatment, when compared to placebo. Both the ACTH response and the cortisol/11-deoxycortisol ratios substantiate evidence derived from animal experiments, indicating a stimulatory influence of serotonin on HPA activity. No firm conclusion, however, may be drawn on by which mechanism zimelidine exerts its action on the HPA-axis. Moreover these findings provide no information on whether serotonin has a stimulatory role on ACTH production under physiological condition.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Pseudohypoaldosteronism ; Down syndrome ; Salt wasting syndrome ; Resonium A
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract At 4 weeks of age, an infant with Down syndrome developed severe dehydration and salt loss with the typical features of pseudohypoaldosteronism (PHA). Plasma renin activity, 11-deoxycorticosterone, corticosterone and aldosterone levels were all increased severalfold over the normal range for age, thus excluding an adrenal biosynthetic defect. Clinical condition, hyponatraemia and hyperkalaemia could be rapidly normalised by the ion exchange resin Resonium A® administered first as enema and later orally (3 g/day). At that time, no further salt supplementation was necessary. At 18 months of age, Resonium A could be completely withdrawn with neither clinical deterioration nor electrolyte abnormalities. However at 31/2 years of age, plasma renin activity and aldosterone were still markedly elevated while precursor steroids were normal and the clinical condition satisfactory. No side effects were observed with the Resonium A® therapy. The combination of trisomy 21 and PHA is very unusual. Similarly, the successful treatment of severe renal salt loss during infancy by sodium supplementation and concomitant potassium withdrawal via an oral ion exchange resin has not yet been described and warrants further therapeutic trials.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Congenital adrenal hyperplasia ; 21-Hydroxylase deficiency ; Active renin concentration ; Plasma renin activity ; Mineralocorticoid replacement therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In congenital adrenal hyperplasia (CAR) due to 21-hydroxylase deficiency, measurement of plasma renin activity (PRA) has been the method of choice in diagnosing salt loss and in monitoring adequacy of mineralocorticoid replacement therapy. Due to methodological problems in PRA determinations, direct immunoradiometric assays for the measurement of active renin concentration have been developed. We measured PRA and active renin concentrations simultaneously in 39 patients with CAH (30 salt-wasting, 9 simple virilizing) to evaluate the potential role of this new method in the management of this disease. PRA was determined with an enzymatic assay (sample volume: 2 × 1000 μl plasma), active renin concentration with a direct immunoradiometric assay (sample volume: 2 × 200 μl plasma or serum). We found a highly significant correlation between active renin and PRA in our patients (P 〈 0.001), as previously shown in healthy subjects. Active renin was as reliable as PRA to assess the quality of mineralocorticoid replacement.
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  • 6
    ISSN: 1432-1076
    Keywords: Septo-optic dysplasia ; De Morsier syndrome ; Optic nerve hypoplasia ; Growth hormone deficiency ; Diabetes insipidus ; Malformations ; Central nervous system
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Septo-optic dysplasia (SOD) is characterized by hypoplasia of the optic nerve, various types of forebrain defects and hormonal deficiencies. We have studied the clinical and endocrinological characteristics of 18 such patients retrospectively to: (1) better define the endocrine abnormalities in children with SOD; and (2) to find approaches for the interdisciplinary long-term care of children with SOD. The children were seen at the Children's Hospital of the University of Munich from 1976 to 1992 (8 boys, 10 girls; age at initial presentation: 1 day–13 years of age, mean 1.9 years). Unilateral hypoplasia of the optic nerve was found in 7 cases, bilateral hypoplasia in 11. Sonographic, CCT or MRI yielded the following results: 4 of the patients had a cavum septum pellucidum, 3 patients had hypoplasia of the cerebellum, 1 aplasia of the corpus callosum and 1 aplasia of the fornix. An empty sella with or without an ectopic pituitary was seen in 4 cases. Height standard deviation score (SDS) at time of diagnosis was −4.0 to +0.4, mean −2.92. Endocrine deficiencies were present in all 11 patients who had undergone endocrinological investigations. Seven patients suffered from isolated growth hormone (GH) deficiency or multiple hypopituitarism. One had diabetes insipidus centralis, 2 had hypogonadotropic hypogonadism, 1 had hypothyroidism and 2 adrenal insufficiency. Hypothalamic testing was performed only in a subset of patients: in 5 of 11 children tested a thyrotropin releasing hormone (TRH test), in two out of nine a gonadotropin releasing hormone (GnRH) test, and in three out of six GH releasing hormone (GHRH) test yielded abnormal results. High prolactin levels were measured in two out of five patients. Conclusion SOD is characterized by optic nerve hypoplasia and a variety of endocrine deficiencies. In addition, forebrain malformations are present in most SOD patients. Hormonal disorders are present in some SOD patients which may be of hypothalamic origin and need to be investigated systematically.
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 914-914 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1076
    Keywords: Key words Neonatal diabetes mellitus ; Intra-uterine dystrophy ; Insulin ; Insulin-like growth factor␣I ; Fetal growth
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1076
    Keywords: Key words Children ; Growth ; Liver and kidney transplantation ; Primary hyperoxaluria type 1
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present data on urinary oxalate (UOX), renal function, growth and bone age in a 10-year-old male with primary hyperoxaluria type 1. The patient had undergone combined liver-kidney transplantation at the age of 4.5 years. UOX increased up to 104 μmol/24 h after transplantation and declined to normal values thereafter. Excessive UOX concentrations after surgery might have been due to a bone pool of unsoluble oxalate and declined spontaneously. Creatinine clearance remained stable during observation period. The boy showed significant catch up growth. Height standard deviation score for chronological age improved from −2.4 before transplantation to −0.3 after 6 years. Radiological bone density improved at the same time. Conclusion Hepatorenal transplantation should be performed in children with primary hyperoxaluria 1 before end-stage renal failure to normalize oxalate excretion and improve growth and bone mineralization.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1076
    Keywords: Key words Indian childhood cirrhosis ; Copper intoxication ; Copper installation ; Well water ; Drinking water with low pH value
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a 3.8-year-old German girl who presented with signs of subacute liver failure based on a 4-month history. Investigations done before admission excluded infectious, metabolic and immunological diseases. Laboratory findings were increased values of aminotransferases, hyperbilirubinaemia, hyperammonaemia and deteriorated plasmatic coagulation. Caeruloplasmin and serum copper concentrations were normal; however, urinary copper excretion was elevated (80 μg/l). Liver biopsy showed a micronodular liver cirrhosis and an extremely high liver copper concentration (1400 μg/g dry weight). Epidemiological investigations revealed an elevated copper concentration (8645 μg/l, normal: 〈2000) and a low pH value (6.3) of the drinking water supplied by copper pipes. The girl had been exposed to copper-contaminated drinking water since the age of 2 years. Conclusion Laboratory, histopathological findings and a proven chronic copper intoxication lead to the diagnosis of Indian childhood cirrhosis in a German girl. Whereas this disease is mostly described in patients with increased copper intake in infancy, our patient developed toxic liver cirrhosis with relatively late copper exposure. Indian childhood cirrhosis should be considered in the differential diagnosis of early childhood liver cirrhosis.
    Type of Medium: Electronic Resource
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