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  • 1
    ISSN: 1432-1076
    Keywords: Ataxia telangiectasia ; Radiosensitivity ; Immunodeficiency ; Flow cytometry ; Cell cycle
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a retrospective study, peripheral blood mononuclear cells from 13 patients with known ataxia telangiectasia (AT) (Louis Bar syndrome, McKusick #20890) were irradiated with different doses of X-rays prior to stimulation with phytohaemagglutinin. Mitogen response and cell cycle progression were assessed by two-parameter 5-bromo-2′-deoxyuridine/Hoechst — ethidium bromide flow cytometry. Compared to age-matched controls, AT cells show a severely defective mitogen response in both unirradiated and irradiated cells. Following irradiation with 1.5 Gy, AT cells exhibit significantly greater accumulations of cells in the G2 phase of the first cell cycle than controls. The ratio between the number of cells accumulated in the first cycle G2 phase and the growth fraction provides a clear distinction between AT and control cultures. In addition, two patients with microcephaly, normal intelligence, immunodeficiency, chromosomal instability and risk for lymphoreticular malignancies (Seemanová syndrome) and two patients with the Nijmegen breakage syndrome (both syndromes are listed as McKusick #25126) also exhibit very poor mitogen response and moderately increased G2 phase accumulations after X-irradiation. The simultaneous assessment of radiosensitivity and mitogen response in a single cell kinetic assay provides a speedy and accurate classification of cells of AT and AT-related syndromes.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 855-858 
    ISSN: 1432-1076
    Keywords: Anticonvulsive drugs renal toxicity ; renal glomerular function ; renal tubular function renal enzymes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To evaluate renal side-effects of anti-epileptic medication in children, we performed a cross-sectional study of various aspects of renal function. We studied 59 patients from our outpatient clinic. They had been on anti-epileptic monotherapy for at least 3 months. None had a history of renal disease. Twenty-three healthy children of the same age group served as controls. After collecting 24-h urine samples, glomerular function was derived from creatinine clearance and from the excretion of albumin. Proximal tubular function was investigated by the urinary excretion of α1-microglobulin and of the tubular enzymes N-acetyl-ß-D-glucosaminidase, alamine-amino-peptidase and fructose-1,6-di-phosphatase. Distal tubular function was examined by the 24-h excretion of Tamm-Horsfall protein. On treatment with carbamazepine (n=27) and phenytoin (n=8), the excretion of α1-microglobulin was significantly increased, as compared with the healthy controls. On valproate (n=20), ethosuximide (n=9) and phenytoin (n=8), therapies significantly increased excretion of N-acetyl-ß-D-glucosaminidase. This must be interpreted as an indication of a functional disturbance of the proximal tubulus. The other parameters, indicating function of the glomerulus, loop of Henle and distal tubules did not differ from normal. Patients on anti-epileptic treatment with therapeutic drug levels may demonstrate minor signs of tubular dysfunction. These are probably insignificant from a clinical standpoint, but they should be considered in drug overdose.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Key words Acute lymphoblastic leukaemia ; Neurophysiology ; CNS late effects ; Quality of life
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Monitoring of therapy-related late effects after acute lymphoblastic leukaemia (ALL) therapy in childhood has become an increasingly important field in posttherapeutic patient surveillance. The usefulness of neurophysiological investigations (e.g. EEG, evoked potentials (EP)) as part of these attempts is controversial. The present report focuses on this problem and the question whether and to what extent routinely performed EEG recordings and visual evoked potentials (VEP) were correlated with further measures of CNS integrity. EEGs and VEPs were recorded in 163 asymptomatic long-term survivors of ALL in childhood during a large retrospective multicentre study evaluating CNS late sequelae following antileukaemic therapy. Fifty-two ALL long-term survivors (4.5–10.6 years after end of therapy, median: 8.8 years), who had been treated according to BFM-81 SR-A (n=30) or SR-B (n=22) were selected for this analysis focusing on therapy-related CNS late effects. Therapy protocols differed with regard to the mode for CNS prophylaxis: SR-A, cranial irradiation with intrathecal methotrexate; SR-B, intrathecal and iv methotrexate. Neurophysiological findings were correlated with illness- and treatment-related parameters, as well as with data on the morphological, neurological and psychological status of the CNS. At the time of follow-up neurophysiological measures were abnormal in 28/52 cases (53.8%). Neither illness- nor therapy-specific differences in CNS prophylaxis showed any relationship to EEG/VEP outcome any relationship to EEG/VEP outcome in this reduced group of the whole study population. Children with EEG/VEP abnormalities showed a significantly higher incidence of structural CNS disturbances compared to those with inconspicuous neurophysiological recordings (60.9% vs 31.8%). However, in this special subject group there was no specific neurophysiological finding for a specific morphological substrate, neurological or psychological deficiency and vice versa. Conclusion Routinely performed EEG/VEP investi gations are not very helpful measures to predict the presence or degree of behavioural deficiencies, neuro‐logical disturbances, or morphological CNS abnor‐malities. Patients who received cranial irradiation or systemic methotrexate applications showed the same incidence of neurophysiological disturbances without evidence for specific neurotoxic correlates.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Congenital muscular dystrophy ; Congenital hypotonia ; Brain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on two brothers and an unrelated girl with congenital muscular dystrophy (CMD), brain malformation and ocular changes (strabismus, myopia, glaucoma, cataracts, retinal dystrophy). Correlations with the inherited autosomal recessive syndromes of CMD, including the Fukuyama-type CMD with CNS malformation, and the Muscle, Eye and Brain Disease published by Santavuori are discussed.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Acute lymphoblastic leukaemia ; CNS-prophylaxis ; Neurotoxicity ; Electroencephalography ; Evoked potentials
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 79 children treated for acute lymphoblastic leukaemia according to protocol ALL-BFM 81, serial EEG examinations were performed before, during and after therapy. Diffuse changes of the background activity were observed in 64% of the children at the time of diagnosis. During induction and reinduction treatment with vincristine andl-asparaginase, and with some delay after CNS irradiation, a marked slowing developed in up to 65% of patients. Children who had not been irradiated showed transient disturbances during treatment with medium-dose-methotrexate. Reinduction induced more abnormal EEGs in the children who had been irradiated. At the end of maintenance therapy, only slight EEG changes were found. No differences between the irradiated and non-irradiated group were then seen. Children with CNS leukaemia or seizures differed from those with an uncomplicated treatment in that they more often showed focal and persistent disturbances. In 39 patients who stayed in first remission for at least 18 months after the termination of treatment, a follow up investigation was performed. From the EEG examination, including power spectral analysis, no differences were found between irradiated and non-irradiated patients. Slowing of the dominant frequency was seen in the patients with more severe leukaemia and in those whose EEG had been markedly abnormal at diagnosis. The visually evoked potentials were normal in all groups of patients. In the brainstem auditory evoked potential, a prolongation of the latency of wave I and a decrease of the I–V interval was found in irradiated patients. We conclude that the diffuse EEG changes frequently emerging during treatment are reversible. Persistent or lateralized changes can indicate a neurological complication. Neurophysiological abnormalities found at long-term follow up, for the most part cannot be attributed to side-effects of the treatment but rather to disease related factors.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 855-858 
    ISSN: 1432-1076
    Keywords: Key words     Anticonvulsive drugs ; renal toxicity ; renal glomerular function ; renal tubular function ; renal enzymes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract      To evaluate renal side-effects of anti-epileptic medication in children, we performed a cross-sectional study of various aspects of renal function. We studied 59 patients from our outpatient clinic. They had been on anti-epileptic monotherapy for at least 3 months. None had a history of renal disease. Twenty-three healthy children of the same age group served as controls. After collecting 24-h urine samples, glomerular function was derived from creatinine clearance and from the excretion of albumin . Proximal tubular function was investigated by the urinary excretion of α1-microglobulin and of the tubular enzymes N-acetyl-ß-D-glucosaminidase, alanine-amino-peptidase and fructose-1,6-di-phosphatase. Distal tubular function was examined by the 24-h excretion of Tamm-Horsfall protein. On treatment with carbamazepine (n = 27) and phenytoin (n = 8), the excretion of α1-microglobulin was significantly increased, as compared with the healthy controls. On valproate (n = 20), ethosuximide (n   = 9) and phenytoin (n = 8), therapies significantly increased excretion of N-acetyl-ß-D-glucosaminidase. This must be interpreted as an indication of a functional disturbance of the proximal tubulus. The other parameters, indicating function of the glomerulus, loop of Henle and distal tubules did not differ from normal. Conclusion     Patients on anti-epileptic treatment with therapeutic drug levels may demonstrate minor signs of tubular dysfunction. These are probably insignificant from a clinical standpoint, but they should be considered in drug overdose.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1920
    Keywords: Key words Venous angioma ; Cerebellum ; Developmental venous anomaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A rare (arteriolo-)capillo-medullary venous anomaly of the cerebellum was examined with CT, MRI, and angiography. Unlike the usual venous angioma, this case had such extraordinary features as: infratentorial location, involvement of the whole left cerebellum, an arteriolocapillary component and a history of progressive vomiting and chronic constipation in a 7-year-old boy. CT and MRI were consistent with an extensive vascular malformation, but the actual diagnosis was reached by angiography.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1920
    Keywords: Venous angioma ; Cerebellum ; Developmental venous anomaly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A rare (arteriolo-)capillomedullary venous anomaly of the cerebellum was examined with CT, MRI, and angiography. Unlike the usual venous angioma, this case had such extraordinary features as: infratentorial location, involvement of the whole left cerebellum, an arteriolocapillary component and a history of progressive vomiting and chronic constipation in a 7-year-old boy. CT and MRI were consistent with an extensive vascular malformation, but the actual diagnosis was reached by angiography.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The disease course and therapy of a nine-and-a-half-year-old boy with hyperphenylalaninemia due to a dihydropteridine reductase deficiency are reported. Clinically, there is a marked mental retardation and complex basal ganglion symptoms. The cranial computed tomographic investigation shows bilateral, symmetrical, comma-shaped calcifications in the globus pallidus and the putamen of the lentiform nucleus. The cause of these basal ganglion calcifications remains unclear. Lowering of serum and CSF folic acid levels could not be detected, in contrast to cases with the same enzyme defect described previously.
    Type of Medium: Electronic Resource
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