Vaccination of children under immunosuppressive therapy with ADS-m anatoxin

The effectiveness and safety of the immunization of children with adsorbed DT toxoid with reduced component with disturbances in the reactivity of the body, caused by immunosuppressive therapy, are evaluated. The group under study included 53 children with glomerulonephritis, malignant tumors and acute lymphoblast leucosis, formerly receiving immunosuppressive drugs. The control group consisted of 24 patients with pyelonephritis who had not received such therapy. In the postvaccinal period no exacerbation of the main disease was registered in children. The manifestation and frequence of postvaccinal reactions did not differ from those observed in healthy children after the injection of adsorbed DT toxoid with reduced antigen content. Control serological testing demonstrated the presence of pronounced immune response in the vaccinees.     

Cytogenetic investigations on children with acute non-lymphocytic leukemia

Cytogenetic data from 30 children with acute non-lymphocytic leukemia (ANLL) are evaluated in connection with patient's age, morphological type of leukemia and prognosis. In 20 out of 30 patients clonal chromosome aberrations were found. The frequency of chromosome aberrations and the prognostic parameters in the various morphological and age groups proved to be different and no direct relationship could be found in a given group between the frequency of aberrations and the prognosis. A more detailed analysis of data, however, provided some evidence that chromosome aberrations observed at diagnosis had a prognostic value independent of age and the morphological properties of blast cells: the normal karyotype and the pseudodiploidy proved to be of a favorable value but the hyperdiploidy and polyploidy an unfavorable prognostic parameter. Besides the known cytogenetic differences between childhood and adult ANLL, some similarities are also emphasized.     

Increased sister chromatid exchanges in epileptic children during long-term therapy with phenytoin

Summary In lymphocyte cultures of nine children suffering from epilepsy and therefore treated with phenytoin (DPH), increased sister chromatid exchanges (SCE) were found. Their average SCE-rate exceeded that of a normal control group by 55%.This work contains parts of the M.D. thesis of C. Stumpf     

Chromosomal investigations in epileptic children during long-term therapy with phenytoin or primidone

Summary In epileptic children the long-term therapy with anticonvulsant drugs is absolutely necessary. However, anticonvulsant drugs have been suspected to be mutagenic and teratogenic. To investigate this problem metaphase chromosome observations were performed using short-time culture of peripheral blood lymphocytes from twenty children. Ten of the children had been treated with phenytoin and the other ten with primidone on monotherapy. The long-term administration of anticonvulsant drugs was monitored by measurement of the serum concentrations of phenytoin and primidone, by seizure anamnesis, and by repeated EEG investigations. Analyzing 100 mitoses from each proband, we found no increase of structural or numerical aberrations in our patients compared with six controls. In adults, however, anticonvulsant drugs have been found to cause structural aberrations and chromosomal damage. The absence of these lesions in children may reflect the higher efficiency of DNA-repair in local DNA-damage.Dedicated to Prof. Dr. H. Schoenenberg, Aachen, on his 65th birthdayThis work contains parts of the M.D. theses of U.M. and E.M.     

Response to long-term growth hormone therapy in short children with reduced GH bioactivity

BACKGROUND/AIMS: The aim of the present study was to investigate whether short children with normal growth hormone (GH) immunoreactivity, but reduced bioactivity (bioinactive GH) could benefit from rhGH treatment as GH deficient (GHD) patients. Methods: We evaluated 12 pre-pubertal children (8 M, 4 F), with GH deficiency-like phenotype showing normal serum GH peak levels (>10 ng/ml), measured by immunofluorimetric assay (IFMA-GH), in contrast with a reduced GH bioactivity (bio-GH), evaluated using the Nb(2) cells. We also evaluated 15 age-matched GHD pre-pubertal children (11 M, 4 F) with serum GH peak <5 ng/ml. Both groups were treated with rhGH therapy at the dose of 0.23 mg/kg/week s.c. RESULTS: Serum bio-GH/IFMA-GH ratio at peak time for each patient during the provocative test was significantly lower in bioinactive GH than in GHD children (0.29 vs. 2.05, p = 0.00001). Recombinant human GH therapy induced a significant (p < 0.001) increase in growth rate in both groups during the first 2 years. In the third year of treatment, while growth rate in GHD children is maintained, in bioinactive GH patients it decreases remaining, however higher compared to the pre-treatment one. CONCLUSIONS: Short rhGH therapy given to selected bioinactive GH children improve growth rate and might result in greater final adult height.     

匙吻鲟的细胞遗传学分析

采用体内注射PHA和秋水仙素,肾细胞短期培养,常规空气干燥法制备匙吻鲟(Polyodon spathula)的染色体标本.对其肾细胞染色体数目统计分析表明,匙吻鲟染色体组南120条染色体所组成.以测得的核型参数和按Levan,et al.提出的染色体划分标准得出:具有22对中部着丝粒染色体(m),16对亚中部着丝粒染色体(sm),22对亚端部着丝粒染色体(st)和端部着丝粒染色体(t);染色体臂数(NF)为196,核型公式为44 m + 32am + 44st,t.再采用流式细胞仪分析系统测定匙吻鲟体细胞的DNA含量,与鸡血细胞标准对照相比为2.69±0.19,以鸡红细胞DNA含量2.3 pg/N测算.则匙吻鲟体细胞DNA含量为6.18 pg/N.根据所得到的结果并结合已发表的鲟鱼类DNA含量和染色体资料,判定匙吻鲟为四倍体物种.鲟形目伍类全部为多倍体起源的鱼类,在细胞水平的进化比较特殊,以染色体加倍的方式进行.染色体加倍及分化,可能是造成鲟形目鱼类种类较多及多倍体类型(4n、8n、12n等)丰富的主要原因.     

Cytogenetic analysis of ethanol-induced parthenogenesis

The brief exposure of recently ovulated mouse oocytes to a dilute solution of ethanol in vitro for 1, 3, or 5 min induced a uniform high incidence of parthenogenetic activation. The majority of parthenogenones developed a single haploid pronucleus after the extrusion of a second polar body. The proportionate incidence of this parthenogenetic class was significantly reduced as the duration of ethanol exposure increased from 1 min to 5 min. There was a concomitant increase in the incidence of parthenogenones that developed two haploid pronuclei following failure of extrusion of the second polar body. Cytogenetic analysis of the ethanol-induced single-pronuclear haploid parthenogenones at metaphase of the first cleavage division clearly demonstrated that a significant proportion were aneuploid. The incidence of aneuploidy observed was directly related to the duration of ethanol exposure. G-band analysis of the aneuploid metaphases revealed that the chromosomes were not randomly involved in the malsegregation events. This observation may be a reflection of the relationship of particular chromosomes to the meiotic spindle apparatus rather than on any specific property of the agent to which they were exposed. It is believed that ethanol disrupts the organisation of cytoskeletal elements and, in particular, interferes with the processes of chromosome segregation at the second meiotic division.     

Body composition abnormalities in children with Prader-Willi syndrome and long-term effects of growth hormone therapy

Obesity and hypothalamic GH deficiency contribute in different ways to the disturbances of body composition in Prader-Willi syndrome (PWS); while both increase the fat compartment, the reduction of lean tissue mass has been attributed mainly to GH deficiency. Therefore, body composition measured by dual-energy X-ray absorptiometry was prospectively studied in 12 overweight children with PWS and weight for height (WfH) SDS >0 before and during 3.5 years of treatment with hGH (0.037 mg/kg/day) on average. In the long term, there is a net reduction of body fat from 3.1 to 1.2 SD, with a minimum at the end of the second year of treatment. WfH SDS correctly reflects body fat mass and its changes. The initial deficit of lean mass (-1.6 SD) is counteracted by GH only during the first year of therapy (increase to -1.25 SD). But in the long term, GH therapy does not further compensate for this deficit, when lean mass is corrected for its growth-related increase. In conclusion, exogenous GH changes the phenotype of children with PWS: fat mass becomes normal, but, at least in the setting studied, GH is not sufficient to normalize lean tissue mass.     

Mode of action of the antibacterial compound dequalinium acetate

[This corrects the article on p. 122 in vol. 17.].     

Cytogenetic studies in children with Acute Lymphocitic Leukemia-B in Costa Rica

Chromosome analyses were performed on bone marrow of 177 pediatric patients with Acute Lymphocitic Leukemia at the "Hospital Nacional de Nifios". The standard cytogenetic techniques now belongs to the panel of mandatory analyses performed at diagnosis of our acute leukemia patients and represent a major advantage to be effective and independent prognostic factors, essential for therapeutic choices. Cytogenetic results were achieved in 83% of the bone marrow samples: normal karyotypes represented 29% and abnormal karyotypes 71% with the follow distribution: t(9;22) 3%; t(l;19) 5%; t(4;11) 3%, Hyperdiploidy 39%; other chromosomal abnormalities 21%. Systematic cytogenetic analyses are essencial to define morpho-immunologic sub-types of leukemia and to detect new translocations that allows to understand hematopoiesis and leukemogenesis.     

Cytogenetic study of mentally retarded children in Taipei

560 blood samples collected from mentally retarded children in Taipei were karyotypically analyzed for the incidence of fragile X and other chromosome abnormalities. The fragile site at Xq27.3 was observed in 18 patients (3.21%), 11 males and 7 females, out of the 560 blood cultures using M medium. Down syndrome (6.25%), 24 males and 11 females, was the other major category of abnormality. Other abnormalities, including inversion, translocation, deletion, duplication, ring as well as an extra marker chromosome were observed. The overall incidence of chromosomal abnormalities in these children was 14.82%.     

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up

This report documents the long-term cognitive and adaptive outcome of children with infantile Pompe disease. Specifically, we describe the cognitive and adaptive functioning of seven children with classic infantile Pompe disease and two children with atypical infantile Pompe disease who have received enzyme replacement therapy (Myozyme?) for an average of 6 years, 8 months and 4 years, 1. 5 months, respectively. Multiple assessments of cognitive functioning were completed over time by means of individualized intelligence (IQ) testing. Adaptive functioning was measured by means of the Vineland Adaptive Behavior Scales-Second Edition (VABS-II). Consistent with our earlier findings regarding infants treated with ERT, children with classic infantile Pompe disease (ages 4 years, 11 months to 8 years, 11 months) were functioning at the lower end of the average range in comparison to their typical peers on their most recent IQ test. There was no evidence of a decline in their cognitive abilities over time. In contrast, the two children with atypical infantile Pompe disease (ages 5 years, 4 months and 5 years, 11 months) obtained above average IQ scores and demonstrated significant gains in IQ over time. For all children where adaptive functioning was assessed, their overall level of adaptive functioning on the VABS-II was lower than their Full Scale IQ scores on cognitive testing. Motor function appears to be an important factor impacting on reduced adaptive behavior. The implication of these findings on our understanding of a possible relationship between CNS status in children with Pompe and their adaptive and cognitive function is discussed.     

Cytogenetic analysis of unfertilized human oocytes

The results of morpho-functional and cytogenetic analyses of 341 oocytes unfertilized in the course of extracorporal fertilization programme are presented. The causes of the "failure" during in vitro fertilization of the oocytes are discussed. Relation of the frequency of oocyte chromosome abnormalities (40.2%) on the patient age and cell maturity has been shown.     

Cytogenetic analysis of lymphoblastoid cell lines

Cytogenetic abnormalities were discovered in more than half of 16 lymphoblastoid cell lines established from fragile X individuals and their relatives upon routine cytogenetic analysis of early passage cultures. Subsequently, a second series of lymphoblastoid lines was analyzed to determine if the aneuploidy was a characteristic of lymphoblastoid cell lines derived from fragile X families or a result of the use of cyclosporin A in the establishment of these lines. In the second series of 33 lymphoblastoid cultures, no aneuploid clones were found in the fragile X group, while two were detected in the control cultures, one in a line initiated with cyclosporin A and the other in a line established without cyclosporin A. We conclude that the abnormal clones in our preliminary series were not a characteristic of lines derived from fragile X families and probably not due to the use of cyclosporin A. However, the finding of chromosome abnormalities in a large proportion of lines during the first 3 mo of culture contrasts with previous reports of chromosome stability for the first 12-18 mo of cultivation and indicates that the chromosomes of lymphoblastoid lines should be monitored in any experiment in which a normal diploid complement is critical.     

Plasma testosterone in prepubertal cryptorchid boys under long-term HCG therapy.

Plasma testosterone concentrations were determined before and after 6 weeks of human chorionic gonadotropin treatment in 36 prepubertal boys with bilateral or unilateral cryptorchidism. Mean +/- SD basal and post-treatment values (ng/100 ml) in the bilateral group were: treatment successful (n = 14): 32 +/- 19 and 302 +/- 49, treatment unsuccessful (n = 12): 20 +/- 15 and 176 +/- 73. The figures for the unilateral group were: treatment successful (n = 6): 23 +/- 9 and 244 +/- 41, treatment unsuccessful (n = 5): 22 +/- 11 and 264 +/- 102. In the bilateral group significant differences in the T response emerged when successfully treated boys were compared to unsuccessfully treated ones. It is concluded that Leydig cell function may be impaired in some cases of cryptorchidism.