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Balanced chromosome rearrangements and abnormal phenotype. 平衡的染色体重排和异常表型。
Acta paediatrica Hungarica Pub Date : 1991-01-01
G Kosztolányi, K Bajnóczky, K Méhes
{"title":"Balanced chromosome rearrangements and abnormal phenotype.","authors":"G Kosztolányi,&nbsp;K Bajnóczky,&nbsp;K Méhes","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Analysis of the results of 3411 routine cytogenetic examinations initiated by abnormal phenotype or family history revealed that out of 44 cases with balanced structural aberration 12 patients had an abnormal phenotype. Of the 12 cases, there were four reciprocal translocations, three Robertsonian translocations, and five pericentric inversions. Eight rearrangements were inherited, one had occurred de novo, and three were of unknown origin. Each carrier parent was apparently healthy. In all of the four cases with reciprocal translocation the rearrangements were of paternal origin. None of the clinical abnormalities could be assigned specifically to the breakpoints. Explaining the association of balanced chromosomal rearrangement and clinical abnormalities, possibilities of causal relationship and by chance coincidence are discussed.</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 4","pages":"397-402"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12951933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Examination of the fetal heart with two-dimensional echocardiography. 用二维超声心动图检查胎儿心脏。
Acta paediatrica Hungarica Pub Date : 1991-01-01
A Pál, U Gembruch, M Hansmann
{"title":"Examination of the fetal heart with two-dimensional echocardiography.","authors":"A Pál,&nbsp;U Gembruch,&nbsp;M Hansmann","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The methodology of the two-dimensional fetal echocardiography is described by the basic of the accepted international nomenclature. By their opinion it is necessary that on the 18-20th weeks of gestation the high risk pregnants in aspect congenital heart disease examined by well-trained specialists. The indications of the echocardiography are listed, too.</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 2","pages":"187-200"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13027955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Euthyroid sick syndrome in children with acute viral hepatitis A. 急性病毒性甲型肝炎患儿甲状腺功能亢进综合征。
Acta paediatrica Hungarica Pub Date : 1991-01-01
H Tahirović, D Marić
{"title":"Euthyroid sick syndrome in children with acute viral hepatitis A.","authors":"H Tahirović,&nbsp;D Marić","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>According to the clinical findings, the activity of serum asparate aminotransferase (EC 2.6.1.1), alanine aminotransferase (EC 2.6.1.2) and the level of total bilirubin, 45 children with acute viral hepatitis A were divided into two groups: with mild and moderately severe degree of disease. By determining the products of the peripheral thyroxine metabolism-T3 and rT3, as well as the other thyroid parameters (T4, FT4, TSH and TBG) we have found significantly lower T3 level and significantly higher T4 and TBG levels in both groups of patients in comparison with control group. At the same time, the level of biologically less active rT3 was increased in patients with moderately severe form of disease, while no differences were found in the values of TSH between the ill and control patients. TRH induced TSH release was normal in all patients. The results of this study point to the development of euthyroid sick syndrome or low T3 syndrome in children with viral hepatitis A.</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 2","pages":"233-9"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13029327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Carnitine content of red blood cells of human subjects treated with pivampicillin and carnitine. 用哌vampicillin和肉毒碱处理的人红细胞中肉毒碱的含量。
Acta paediatrica Hungarica Pub Date : 1991-01-01
B Melegh, V Jászai
{"title":"Carnitine content of red blood cells of human subjects treated with pivampicillin and carnitine.","authors":"B Melegh,&nbsp;V Jászai","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Total- and free carnitine content of washed pooled red blood cells collected from five children prior to and on the last day of combined pivampicillin and equal molar carnitine treatment were measured. On the last day of treatment (day 7) the level of total carnitine decreased from 47.5 +/- 3.39 to 37.5 +/- 2.48 nmol/ml, mean +/- SEM (p less than 0.05) with a concomitant decrease of free carnitine (from 19.2 +/- 0.97 to 15.5 +/- 0.99 nmol/ml, p less than 0.05) as compared with the pretreatment control day (day 0). The calculated amount of acid soluble carnitine esters also fell (from 28.2 +/- 3.38 to 21.9 +/- 1.78 nmol/ml). The same effects were found when the carnitine levels were referred to haemoglobin or water content of samples. These results demonstrate that in pivampicillin treatment the carnitine pool of erythrocytes also alters. In agreement with previous findings the data presented here suggest, that the administered carnitine was not sufficient to meet the enhanced needs of the organism caused by the pivalate load and that the organism utilized some of its stores for pivaloylcarnitine production. The decreased carnitine ester level of erythrocytes suggest, that the red blood cells do not participate in significant extent in pivaloylcarnitine transport or production.</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 2","pages":"255-61"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13029329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Familial extra bisatellited microchromosome and Down syndrome. 家族性额外双卫星微染色体与唐氏综合症。
Acta paediatrica Hungarica Pub Date : 1991-01-01
K Bajnóczky, S Gardó
{"title":"Familial extra bisatellited microchromosome and Down syndrome.","authors":"K Bajnóczky,&nbsp;S Gardó","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Authors report on a Down infant, whose chromosome complement includes an extra small bisatellited marker chromosome. This marker was also found in four healthy members of the family.</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 4","pages":"403-6"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12999631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Erythrocyte damage in newborn babies caused by hyperbilirubinaemia and hypoxia. 高胆红素血症和缺氧引起的新生儿红细胞损伤。
Acta paediatrica Hungarica Pub Date : 1991-01-01
V A Oláh, L Csáthy, L Karmazsin
{"title":"Erythrocyte damage in newborn babies caused by hyperbilirubinaemia and hypoxia.","authors":"V A Oláh,&nbsp;L Csáthy,&nbsp;L Karmazsin","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Erythrocyte damage of newborn babies suffering from hyperbilirubinaemia and hypoxia was compared with a control group. In the cases of serum bilirubin level higher than physiological icterus lipid peroxidation of erythrocytes decreased probably due to the antioxidant effect of bilirubin. Moreover, an increase in potassium and protein outflow from patients' red blood cells was observed indicating a membrane damage both in hyperbilirubinaemic and hypoxic groups. Superoxide dismutase activity of serum and erythrocytes did not show significant difference in patients compared with healthy newborns. However, the low serum coeruloplasmin level in the hypoxic group and the low serum transferrin level of babies both with hypoxia and hyperbilirubinaemia suggest an insufficient antioxidant defence against free radicals.</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 3","pages":"357-64"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12904767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Value of brainstem acoustic evoked potentials in posterior fossa tumours in childhood. 脑干声诱发电位在儿童后窝肿瘤中的价值。
Acta paediatrica Hungarica Pub Date : 1991-01-01
R Kálmánchey, K Skripeczky, E Miriszlai, D Schuler
{"title":"Value of brainstem acoustic evoked potentials in posterior fossa tumours in childhood.","authors":"R Kálmánchey,&nbsp;K Skripeczky,&nbsp;E Miriszlai,&nbsp;D Schuler","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Brainstem acoustic evoked potentials (BAEPs) were measured in 14 children with different type of posterior fossa tumours several times during the clinical course, in order to assess the value of this simple and non-invasive method in the diagnosis and follow-up of posterior fossa tumours in childhood. Eight children had midline medulloblastoma, three children had lateral astrocytoma, three had intrinsic brainstem glioma. Different BAEP patterns could be detected in different tumour's type: bilateral symmetrical or slightly asymmetrical I-V. IPL prolongation in midline medulloblastomas, unilateral or markedly asymmetrical I.-V. IPL prolongation or wave V. depression on the contralateral side in lateral astrocytomas, and severely distorted asymmetrical waveform in intrinsic brainstem gliomas. The BAEPs were abnormal earlier than CT scan in a case of craniospinal astrocytoma. BAEPs were useful in the follow-up: the effect of the preoperative chemotherapy or the progression of the inoperable tumours could be as well documented by this method, as by the CT scan. BAEPs proved effective in the assessment of postoperative neurological complications: bilateral symmetrical IPL prolongation and wave V. depression with clinical signs of increased intracranial pressure occurred in a case of postoperative occlusive hydrocephalus, unilateral IPL prolongation occurred during irradiation or chemotherapy after medulloblastoma removal as signs of cerebral oedema.</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 1","pages":"83-101"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13027950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Pediatrics and pediatricians]. [儿科和儿科医生]。
Acta paediatrica Hungarica Pub Date : 1991-01-01
H R Wiedemann
{"title":"[Pediatrics and pediatricians].","authors":"H R Wiedemann","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 2","pages":"141-7"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13027951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The care of infants and children. 照顾婴儿和儿童
Acta paediatrica Hungarica Pub Date : 1991-01-01
M E Avery, T M Rotch
{"title":"The care of infants and children.","authors":"M E Avery,&nbsp;T M Rotch","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The growth and development of pediatrics took place principally in the twentieth century. One result has been the reduction in deaths in the first year of life 165/1000 live births to 10/1000 live births in 1987. The birth rate was reduced by one-half during the same period. The challenges of the future are to consider the needs of American children in the context of the world's children, since isolation from global problems associated with logarithmic population growth in the developing countries and maldistribution of food is no longer possible. The time has come to consider the limits to application of our ever more sophisticated technology to support life at both ends of the spectrum of human life, the most immature and the most debilitated elderly. Human behavior continues to be unnecessarily destructive for children. Congenital AIDS and drug-abusing parents are catastrophic for the infant. Accidents remain the leading cause of death of children in America. Deaths from diarrheal diseases and malnutrition are the main causes of death of children in developing countries. Nearly all of these problems are preventable with the application of current knowledge. How could we have let the best interests of children slip so far down on our national list of priorities in health care?</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 2","pages":"149-58"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13027952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The diagnosis and treatment of the nonimmune hydrops fetalis. 非免疫性积水胎儿的诊断与治疗。
Acta paediatrica Hungarica Pub Date : 1991-01-01
A Pál, U Gembruch, R Bald, M Hansmann
{"title":"The diagnosis and treatment of the nonimmune hydrops fetalis.","authors":"A Pál,&nbsp;U Gembruch,&nbsp;R Bald,&nbsp;M Hansmann","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Fetal hydrops is associated with two distinct pathophysiologic situations. The isoimmune hydrops fetalis is a well understood disorder, and as the result of medical advances and prophylactic therapy its frequency is diminishing. The nonimmune hydrops fetalis is a poorly understood disease with a bad prognosis. The two disorders can be differentiated with the indirect Coombs test. In both cases the ultrasound examination plays an important role in the diagnosis, prognosis and management. Examination of the fetal blood sample gives recently a possibility to approach the disease. In NIHF the examination of fetal blood sample would give a relatively quick and effective diagnosis but its value for the treatment is limited. Although with the present technology it is impossible to diagnose all cases of NIHF, the early recognizing, the careful and step by step investigation, the active perinatologic management mostly can show the etiology and can help the perinatal team at the treatment of the disease.</p>","PeriodicalId":76974,"journal":{"name":"Acta paediatrica Hungarica","volume":"31 2","pages":"169-86"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13027954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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