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  • 1
    ISSN: 1573-2649
    Keywords: Gaucher disease ; health-related quality of life (HRQoL) ; enzyme replacement therapy.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To obtain information about how Gaucher disease and its treatment, specifically enzyme replacement therapy, affect patients' health-related quality of life (HRQoL), we interviewed 16 patients with type I Gaucher disease (range 8–67 years). All but three patients had been receiving enzyme replacement therapy for at least 6 months. The quality of life factors examined for these patients included physical health, social life, emotional health, financial burden, future plans and satisfaction with health care. The results indicated that bone pain and chronic fatigue interfered with school, job and social activities and were the most debilitating symptoms of Gaucher disease. Most patients experienced a significant increase in energy level from therapy and reported significant improvements in quality of life. Most patients did not perceive an effect of Gaucher disease on their overall emotional health, but some patients expressed anxieties about the discomfort, inconvenience and high costs of therapy. We conclude that a measure of HRQoL for Gaucher patients should include a generic core of items supplemented by disease-specific items designed to assess the changes in symptoms and in the occupational, recreational, social and emotional aspects of patients' lives that occur as a result of disease progression and/or management.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Children with phenylketonuria (PKU) are treated with semi-synthetic diets restricted in phenylalanine. Low-phenylalanine or phenylalanine-free formulae provide the majority of protein and energy in the diet while phenylalanine requirements are met by low-protein natural foods. Because of the restriction of natural protein sources in this diet, the study assessed the zinc nutrition of 22 treated children with PKU (aged from 1 month to 8 1/2 years) and correlated linear growth with zinc status. The mean (±SE) plasma zinc concentration of the PKU population was 66.6±3.3 µg/dl. The mean (±SE) hair zinc concentration was 70.2±11.5 µg/g. The mean plasma and hair zinc concentrations of the PKU population were significantly different (p〈0.05) when compared with mean (±SE) normal values of 84.2±2.9 µg/dl and 130.7±8.3 µg/g, respectively. The mean (±SD) dietary zinc intake of 10 PKU patients was 8.56±2.68 mg/day. No significant differences (p〈0.123) were found when the mean zinc intake was compared with National Academy of Sciences Recommended Dietary Allowance for age of 10 mg/day. No significant correlations were found when plasma and hair zinc concentrations were plotted with height percentiles. Further studies are required to assess the effects of zinc supplementation and the bioavailability of zinc from low-phenylalanine diets.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Key words Galactosemia ; [13C]galactose (stable ; isotope) ; Breath test ; Endogenous galactose synthesis ; GALT genotype
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We employed [1-13C]galactose in isotope kinetic studies to delineate whole body galactose metabolism in vivo in patients with galactose-1-phosphate uridyltransferase (GALT) deficiency. The data in three control and three adult galactosemic subjects, homozygous for the most common GALT gene defect, the Q188R mutation, and with absent RBC GALT activity, revealed an apparent endogenous galactose synthesis rate of 0.53-1.05 mg/kg per hour. Unlike normal children and adults who eliminated 3%– 6% and 21%–47% of an intravenous bolus of [1-13C] galactose as 13CO2 in expired air in 1 and 5 h respectively, classic galactosemic patients, either Q188R/Q188R or Q188R/unknown, released almost none in 1h and 3%–6% in 5h. In contrast, an African-American galactosemic variant patient with a S135L/S135L mutation and no residual RBC GALT activity oxidized [1-13C]galactose to 13CO2 at a rate comparable to control subjects. Individuals homozygous for the Duarte mutation, N314D/N314D and Q188R/ N314D, Q188R/+ and S135L/+ subjects also had normal breath test results. Not surprisingly, the Q188R/Q188R classic galactosemic patient cannot handle an acute galactose load, failing to match a control subject in the rapid conversion of [1-13C]galactose to [13C]glucose and 13CO2. However, classic patients synthesize substantial quantities of galactose de novo and on a lactose-free diet must oxidize comparable amounts of galactose to maintain steady-state levels of galactose and galactose metabolites such as galactose-1-phosphate, galactitol and galactonate. In vivo isotope kinetic analyses may allow us to understand better these aspects of galactose metabolism and, through the use of studies in variant galactosemics, perhaps allow us to begin to unravel the pathophysiology of galactosemia.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Osteopathia striata with cranial sclerosis (OS-CS) is a specific bone dysplasia manifested by hypertelorism, flat nasal bridge, frontal bossing, large head, hypoplastic maxilla, palate anomalies, chronic otitis media, hearing deficits, nasal obstruction, and neurological changes of deafness, facial palsy, ophthalmoplegia, and mental retardation. We will review the clinical and radiologic findings in a new patient from birth to 20 years; this is believed to be the thirty-fifth patient reported. OS-CS is 2.5 times more common in females and occurs as an autosomal dominant condition or a sporadic dominant mutation with patients presenting for evaluation from the newborn period to the fifth decade. Skeletal abnormalities are distinctive including sclerosis of the skull base and calvarium, linear striated densities in the long bones and pelvis, and poor development of the mastoid and sinus air cells. Radionuclide bone scans with SPECT indicated in our patient increased bone turnover which was supported by biochemical findings of increased pyridinoline excretion. The major complications are due to constriction of essential foramina at the skull base. The condition is not lifethreatening but can produce disability.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Medicine 43 (1992), S. 377-393 
    ISSN: 0066-4219
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Medicine
    Type of Medium: Electronic Resource
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