Acta paediatrica Academiae Scientiarum Hungaricae最新文献_第4页

Current issues in the practice of genetic counselling. 遗传咨询实践中的当前问题。

Acta paediatrica Academiae Scientiarum Hungaricae Pub Date : 1982-01-01

A Czeizel

引用次数: 0

Effect of exercise on the lipid parameters in the fasting state and under glucose load. 运动对空腹和葡萄糖负荷下血脂参数的影响。

Acta paediatrica Academiae Scientiarum Hungaricae Pub Date : 1982-01-01

A Czinner, L Barta, M Tichy

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HLA antigens in bullous epidermolysis, congenital ichthyosis and ectodermal dysplasia. 大疱性表皮松解症、先天性鱼鳞病和外胚层发育不良的HLA抗原。

Acta paediatrica Academiae Scientiarum Hungaricae Pub Date : 1982-01-01

A László, G Kaiser, M Simon

{"title":"HLA antigens in bullous epidermolysis, congenital ichthyosis and ectodermal dysplasia.","authors":"A László, G Kaiser, M Simon","doi":"","DOIUrl":"","url":null,"abstract":"HLA-ABC antigen typing was carried out in 4 homozygous patients and 10 family members from three families with bullous epidermolysis, 7 homozygous patients and 19 family members of six families with ichthyosis, and 4 homozygous patients and 8 family members of 4 families with ectodermal dysplasia. The type of heredity was established on the basis of genetical evidence and the clinical picture. In bullous epidermolysis cases autosomal recessive heredity was detected in two families with congenital bullous epidermolysis, and autosomal heredity in two families with dystrophic bullous epidermolysis. The HLA-Aw 24, B5 combination, which was thought to be significant in epidermolysis bullosa, was found in one, B5 alone in two, out of the four families. In congenital ichthyosis autosomal recessive heredity was detected in two families out of five. In one, X-linked recessive heredity was found, and in two families X-linked recessive heredity could be supposed. In three families out of the five with congenital ichthyosis, the A2, B18 antigen combination was found. In a family where two infants died from the most severe form of ichthyosis, epidermolysis and psoriasis also occurred. In this family two grandfathers were brothers, and one of the two was a carrier of the Aw24, B5 combination. In the case of ectodermal dysplasia, in one out of four families X-linked recessive heredity, in another autosomal recessive heredity was detected. In two families X-linked recessive heredity could be supposed as only the male children were affected and also on the basis of data in the literature. The HLA-A26, B38 antigen combination occurred in three of these four families.","PeriodicalId":75405,"journal":{"name":"Acta paediatrica Academiae Scientiarum Hungaricae","volume":"23 4","pages":"447-58"},"PeriodicalIF":0.0,"publicationDate":"1982-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18184189","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 occurrence of partial trisomy 4q and probable monosomy 5p due to 4q/5p translocation. 由于4q/5p易位，家族性出现部分4q三体和可能的5p单体。

Acta paediatrica Academiae Scientiarum Hungaricae Pub Date : 1982-01-01

A Gencik, A Gencikova, A Pálova

引用次数: 0

Isolation of aerobic bacteria from the placenta. 胎盘中需氧细菌的分离。

Acta paediatrica Academiae Scientiarum Hungaricae Pub Date : 1982-01-01

L Kovalovszki, Z Villányi, I Pataki, I Veszelowvsky, Z B Nagy

引用次数: 0

Assessing obesity with body weight and height. 用体重和身高评估肥胖。

Acta paediatrica Academiae Scientiarum Hungaricae Pub Date : 1982-01-01

M Amador, C Rodriguez, M E González, J Bacallao

{"title":"Assessing obesity with body weight and height.","authors":"M Amador, C Rodriguez, M E González, J Bacallao","doi":"","DOIUrl":"","url":null,"abstract":"Anthropometric measurements in one hundred girls and one hundred boys from 4.6 to 5.5 years of age were carried out in order to study the correspondence between the criteria of obesity according to weight for stature (BW-HT) and according to the magnitude of fat body mass (FM calculated of two different regression equations, one developed starting from body weight (BW), height (HT) and two skinfolds, and another one, using only BW and HT. Employing the criterion of obesity based upon BW-HT above 120%, a number of heavy but not fatty subjects (mainly boys) were included as obese, and three of the girls studied were fatty but not overweight. Conversely, if we calculate FM using the regression equation based on BW and HT, and the criterion of obesity based upon body fat percent, the incidence of obesity could be underestimated. The best results were given by regression equations which include BW, HT and two skinfolds (triceps and subscapular). Though the usefulness of BW and HT in nutritional assessment is not discussed, the diagnostic limitations of these measurements used alone or in combination are evident and therefore it is necessary to include skinfold measurements if we wish to obtain a correct diagnosis of obesity.","PeriodicalId":75405,"journal":{"name":"Acta paediatrica Academiae Scientiarum Hungaricae","volume":"23 4","pages":"381-90"},"PeriodicalIF":0.0,"publicationDate":"1982-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18184183","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

Ring chromosome 15. 环第15号染色体。

Acta paediatrica Academiae Scientiarum Hungaricae Pub Date : 1982-01-01

P Kiss, M Osztovics

引用次数: 0

Down syndrome: correspondence of clinical diagnosis and karyotype. 唐氏综合征:临床诊断与核型的对应关系。

Acta paediatrica Academiae Scientiarum Hungaricae Pub Date : 1982-01-01

M Osztovics, P Kiss

引用次数: 0

Unusual chromosome aberrations in 3 children with Down syndrome. 唐氏综合征患儿3例异常染色体畸变。

Acta paediatrica Academiae Scientiarum Hungaricae Pub Date : 1982-01-01

M Osztovics, S Tóth, O Wilhelm