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J. KNUDTZON P. LEDAAL M. MIDDELTHON-MOE D. AARSKOG 《Acta paediatrica (Oslo, Norway : 1992)》1988,77(6):922-924
ABSTRACT. The unusual karyotype 4S,X/47,XY,+13 in an 8.5-year-old girl with the Turner phenotype is described. She displayed none of the phenotypic manifestations of trisomy 13. The patient suffered from Crohn's disease, which is known to be associated with the Turner syndrome. To our knowledge this is the first reported case of Crohn's disease in a patient with 45,X and Y chromosome mosaicism. 相似文献
2.
KJELL BJORVATN OLE GILHUUS-MOE DAGFINN AARSKOG 《European journal of oral sciences》1979,87(4):245-252
Abstract— The characteristic feature of osteopetrosis is a lack of osteoclastic activity, leading to a series of somatihd problems for afflicted persons. The life span of osteopetrotic patients has increased in recent years, thereby making oral aspects of the disease more evident. Four children with malignant osteopetrosis, born between 1967 and 1975, were examined. In all patients the anterior teeth were of normal shape, and erupted on schedule. Primary molars and all permanent teeth were greatly distorted, and remained totally or partly embedded in basal bone. Vertical growth of alveolar ridge was very limited. Where a fenestration of overlaying mucosa had occurred, a localized, progressive osteitis developed, leading to soft tissue inflammation and, in two cases, extraoral mandibular fistulas. Periodontal attachment was very poor, spontaneous exfoliation had occurred In all patients. In two children tooth germs and necrotic bone were surgically removed. No beneficial effect of the treatment was observed. Large doses of antibiotics were needed to control recurring infections. No means of curing progressive osseous destruction of mandibular bone has been found. The general prognosis is poor. 相似文献
3.
M. THORÉN T. RÄHN B. HALLENGREN P. H. KAAD K. O. NILSSON H. RAVN M. RITZÉN K. E. PETERSEN D. AARSKOG 《Acta paediatrica (Oslo, Norway : 1992)》1986,75(3):388-395
ABSTRACT. Eight children with Cushing's disease aged 6-18 years were treated with external radiation to the pituitary gland using 60 Co gamma radiation given with stereotactic technique. The dose given varied between 50 and 70 Gy. The observation time was 2.6 to 6.75 years. Seven children had a clinical remission with normal urinary Cortisol excretion. One child had insufficent effect of two irradiations and underwent bilateral adrenalectomy. In the patients in remission the growth velocity increased during the first year after treatment but growth retardation occurred again during the second year. Insufficient growth hormone secretion was demonstrated in all subjects. Two patients were given thyroxine substitution and three showed evidence for secondary hypogonadism. In conclusion, stereotactic pituitary irradiation was effective in normalizing the excessive glucocorticoid production in children with Cushing's disease. However, with the doses used, it was not possible to maintain a normal anterior pituitary function. 相似文献
4.
T. MARKESTAD L. AKSNES P. H. FINNE D. AARSKOG 《Acta paediatrica (Oslo, Norway : 1992)》1983,72(4):517-520
ABSTRACT. The vitamin D nutritional status of premature infants was assessed by determining plasma 25-hydroxyvitamin D concentrations before and during supplementation with 500 IU vitamin D2 per day. Fifty-one samples were collected from 25 healthy infants fed breast milk and a vitamin D3 fortified formula. Gestational age was 32.2±2.4 weeks (mean ± 1 SD). 25-hydroxyvitamin D levels before supplementation correlated well with maternal values ( r =0.81). The infants' mean plasma concentration increased from 30.6±13.7 nmol/l (mean±1 SD) after birth to 46.3±10.5 nmol/l after 9±1 days ( p <0.0025), and to 65.3±16.6 nmol/l after 37±10 days of vitamin D2 treatment ( p <0.0005). 25-hydroxyvitamin D2 and 25-hydroxyvitamin D3 were determined separately, and it appeared that the rise was accounted for by the D2 fraction while 25-hydroxyvitamin D3 concentrations were unchanged. The results demonstrate that vitamin D2 is well absorbed and hydroxylated in the 25 position by premature infants free of associated disease, and that a supplementation of 500 IU per day in addition to breast milk and a regular vitamin D fortified formula is adequate to rapidly establish 25-hydroxyvitamin D levels within the normal adult range. 相似文献
5.
ABSTRACT. Five girls with Marfan syndrome were treated with estrogens for reduction of their final heights. Treatment was started at a chronological age of 12.0±0.5 years and height of 173.0±3.1 cm (means ±SEM). Skeletal age was 12.4±0.2 years and Bayley-Pinneau final height prediction 186.3±1.4 cm. Estrogen treatment for 2.0±0.4 years resulted in final height of 184.1±0.2 cm ( p <0.05). The weight increased with 7.8±2.7 kg during the treatment period. The present results indicate that estrogen treatment may be effective in reducing adult height in girls with Marfan syndrome, but that the effect is probably less than that observed in normally tall girls. This may probably be explained by the rather late start of treatment. No immediate effects on aortic root diameters were observed. Estrogen treatment in Marfan syndrome is discussed with regard to beneficial effects, possible side-effects and optimal age for starting treatment. 相似文献
6.
Plasma Concentrations of Vitamin D Metabolites before and during Treatment of Vitamin D Deficiency Rickets in Children 总被引:2,自引:0,他引:2
T. MARKESTAD S. HALVORSEN K. SEEGER HALVORSEN L. AKSNES D. AARSKOG 《Acta paediatrica (Oslo, Norway : 1992)》1984,73(2):225-231
ABSTRACT. Plasma concentrations of 25-hydroxyvitamin D (25-OHD), 1,25-dihydroxyvitamin D (1,25-(OH)2 D), and 24,25-dihydroxyvitamin D (24,25-(OH)2 D) were determined in 17 children with vitamin D deficiency rickets before therapy was started. Thirteen of them also had these tests repeated during treatment. The median 25-OHD concentration was at the lower limit of the reference range before, but increased distinctly within one week of treatment with 1700–4000 IU vitamin D per day (17 vs. 37 nmol/l, p < 0.01). 24,25-(OH)2 D was undetectable in twelve of the patients before therapy. Detectable concentrations were in the range of 1.7 to 3.5 % of the corresponding 25-OHD levels throughout the study, and the two metabolites were closely correlated ( r = 0.84, p < 0.0005). The median l,25-(OH)2 D concentration was near the average of the reference range before, but increased to well above the upper limit of normal within one week of treatment (121 vs. 368 pmol/l, p < 0.01). The levels were largely normal after 10 weeks of therapy, as were the plasma concentrations of calcium, phosphate, and alkaline phosphatase. Parathyroid activity, as judged by serum parathyroid hormone or urinary cyclic AMP concentrations, was stimulated in 11 of 12 children studied prior to treatment. It is concluded that there may be no clear-cut differences between normal nad rachitic values of the different vitamin D metabolites under practical clinical conditions. A low 25-OHD level combined with evidence of a stimulated parathyroid activity, and a rise of l,25-(OH)2 D levels to supernormal values following a few days of vitamin D therapy may be diagnostic clues. 相似文献
7.
Natural agglutinins to rabbit erythrocytes were found in all human sera studied. In the newborn, the antibodies were of IgG class; in the 6-month-old infants they were mainly of IgM class. Older children and adults had both IgG and IgM antibodies. Agglutinins to rabbit erythrocytes were also found in serum from fourteen of fifteen other species studied. The trichloroacetic acid extract from rabbit erythrocyte stromata (TCA-preparation) contains at least three different antigenic determinants: one which we hitherto to have found only on rabbit erythrocytes, one which is closely related to human blood group B antigen, and one which is closely related to the I antigen. The TCA-preparation did not elicit delayed hypersensitivity skin reactions in humans in spite of high titred agglutinins in serum, but did so in immunized guinea-pigs. 相似文献
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9.
A simple technique requiring only 0.2 ml whole blood for measuring the response of lymphocytes in cultures to each of various mitogens and antigens has been elaborated. The response is quantified by comparing the number of lymphocytes with and without a stimulating agent. The increment of cell numbers is given by a cell multiplication index. In healthy subjects PHA induced almost a doubling of the cell numbers in 3 days, i.e. an index of 1.90±0.38. After 7 days the indexes for PHA, PWM and Con A were 7.25±4.12, 2.724±0.65 and 1.81±0.31, respectively. PPD and Candida-extract induced cell multiplication in skin positive individuals, with indexes ranging from 1.12 to 3.05. In contrast, patients with various severe immune deficiencies showed decreased responses to at least one mitogen, depending on the type of the deficiency. Likewise, skin test negative individuals had no or faint in vitro response to the antigens. The method, which correlated well with the response by a conventional method for incorporation of tritiated thymidine, has a high degree of precision and sensitivity, and should lie applicable for routine use. 相似文献
10.
A FAMILIAL 3/18 RECIPROCAL TRANSLOCATION RESULTING IN CHROMOSOME DUPLICATION-DEFICIENCY (3?+– 18q -)
DAGFINN AARSKOG 《Acta paediatrica (Oslo, Norway : 1992)》1969,58(4):397-406
Following 3 abortions a mother with 3/18 reciprocal translocation gave birth to 2 sons with multiple congenital abnormalities. Chromosome analysis in one of them revealed trisomy for a segment of one arm of chromosome No. 3 and a deletion involving the long arm of No. 18. The clinical features resembled closely those reported in deletion of the long arm of chromosome No. 18. At the age of 12 months he had normal serum levels of IgM, IgG and IgA. Both parents and the child had blood group O. Serum from the child revealed an absence of anti-A isoagglutinins, and anti-B isoagglutinins could only be detected with special technique, wheras both parents had relatively high titres of both isoagglutinins. The gene loci of MNS, Rh, Duffy, Gm, Hp, and phosphoglucomutase can be excluded from the deleted part of chromosome No. 18. 相似文献