Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Pathological study on a severe sialidosis (α-neuraminidase deficiency) (1986)
    Springer
    Acta neuropathologica 71 (1986), S. 278-284 
    Details
    ISSN: 1432-0533
    Keywords: Severe sialidosis ; α-Neuraminidase deficiency ; Neuropathology ; Congenital ascites ; Nephrosialidosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 56-day-old infant with α-neuraminidase deficiency, whose clinical features included severe edema of extremities and ascites which resembled those in severe infantile sialidosis, was autopsied. Perforation, whose pathogenesis was unclear, was found on the descending portion of the duodenum. Light and electron microscope studies showed that neurons in the cerebral and cerebellar corticies, and the thoracic spinal cord contained membrane-bound vacuoles but no membranous cytoplasmic bodies. Zebra bodies were found only in the neurons of the spinal cord. The neurons in the paraganglion and in the Auerbach's myenteric plexus were also distended with numerous membrane-bound vacuoles. Hepatocytes, endothelial cells and Kupffer cells in the liver and glomerular and tubular epithelial cells in the kidney were swollen with a number of vacuoles although the patient showed none of the clinical features of renal involvement. These pathological changes were similar to those in nephrosialidosis reported by Le Sec et al. [Arch Fr Pediatr 35:819–829 (1978)].
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00688050
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Secondary hyperparathyroidism with 1,25-dihydroxyvitamin D deficiency and pseudohypoparathyroidism in childhood: Relationship between plasma 1,25-dihydroxyvitamin D and parathyroid hormone levels and urinary cyclic AMP response to exogenous PTH (1981)
    Springer
    European journal of pediatrics 135 (1981), S. 267-271 
    Details
    ISSN: 1432-1076
    Keywords: Pseudohypoparathyroidism ; Pseudopseudohypoparathyroidism ; 1,25-dihydroxyvitamin D
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In order to clarify the complex interrelationship between serum calcium, 1,25-dihydroxyvitamin D (1,25(OH)2D), and parathyroid hormone (PTH), and the urinary excretion of cyclic AMP (cAMP) in response to exogenous PTH in pseudohypoparathyroidism (PHP) and related diseases, we investigated 3 patients with parathyroid disorders before and after treatment with 1α-hydroxyvitamin D3 (1α-OH-D3). Low plasma 1,25(OH)2D before treatment increased after giving 1α-OH-D3 (0.1 μg/kg/day), where-as high plasma PTH measured by the C-terminal assay (C-PTH) decreased in all 3. No response in urinary cAMP was found before or after treatment in 2 patients with PHP type I, despite the fall of plasma C-PTH. However, in one patient with extremely high plasma C-PTH but normal N-PTH (measured by a homologous radioimmunoassay using 1–34 human PTH), urinary cAMP response to exogenous PTH was increased after treatment with 1α-OH-D3. We suggest that he had pseudopseudohypoparathyroidism (PPHP) with Albright's hereditary osteodystrophy and a partial deficiency of renal 1α-hydroxylase. In this patient secondary hyperparathyroidism is thought to be due to 1,25(OH)2D deficiency, and the decreased responsiveness to exogenous PTH before treatment due to excess PTH occupying renal receptors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442101
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Activity of renal 25-hydroxyvitamin D3-1α-hydroxylase in a case of X-linked hypophosphataemic rickets (1984)
    Springer
    European journal of pediatrics 142 (1984), S. 219-222 
    Details
    ISSN: 1432-1076
    Keywords: Hypophosphataemic rickets ; 1,25(OH)2D ; 1α-hydroxylase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 1974, a 2-year-old boy was diagnosed as having X-linked hypophosphataemic rickets (XLH) because of severe rickets and hypophosphataemia. The vitamin D metabolite concentrations, blood and urine chemistry and renal 25-hydroxyvitamin D3 (25 OHD3)-1α-hydroxlase were measured in 1982 (about 2 weeks after withdrawal of medication). 1α-hydroxylase was 392 pg/mg tissue/20 min in the patient, which was high compared with aged-matched controls (69.7±28.5 pg/mg tissue/20 min, mean ±SD, n=7). Our present studies showed that the 1α-hydroxylase activity in the patient with XLH was elevated. Therefore, the normal or low 1,25-dihydroxyvitamin D3 (1,25-(OH)2D3) concentrations in XLH patients could be due to accelerated catabolism of 1,25-(OH)2D3 or abnormally regulated 25OHD3-1α-hydroxylase in response to hypophosphataemia, although significantly elevated above that in normal controls.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442454
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...