Acta paediatrica Scandinavica. Supplement最新文献_第4页

Changes in skeletal muscle after discontinuation of growth hormone treatment in young adults with hypopituitarism. 垂体功能减退的年轻成人停止生长激素治疗后骨骼肌的变化。

Acta paediatrica Scandinavica. Supplement Pub Date : 1989-01-01 DOI: 10.1111/j.1651-2227.1989.tb11244.x

O M Rutherford, D A Jones, J M Round, M A Preece

引用次数: 34

Beneficial and adverse effects of various types of early infant nutrition. Berzelius Symposium XIII. Umeå, June 9-10, 1988. Proceedings. 各种类型的早期婴儿营养的有益和不良影响。贝采里乌斯研讨会十三。1988年6月9日至10日。程序。

Acta paediatrica Scandinavica. Supplement Pub Date : 1989-01-01

引用次数: 0

Prenatal diagnosis and genetic counseling of cystic fibrosis. 囊性纤维化的产前诊断和遗传咨询。

Acta paediatrica Scandinavica. Supplement Pub Date : 1989-01-01 DOI: 10.1111/apa.1989.78.s363.20

M F Niermeijer, D J Halley, W J Kleijer, H J Neijens, M Sinaasappel

{"title":"Prenatal diagnosis and genetic counseling of cystic fibrosis.","authors":"M F Niermeijer, D J Halley, W J Kleijer, H J Neijens, M Sinaasappel","doi":"10.1111/apa.1989.78.s363.20","DOIUrl":"https://doi.org/10.1111/apa.1989.78.s363.20","url":null,"abstract":"The number of DNA markers at the chromosome 7-locus of the putative CF gene has markedly increased in recent years, also as a result of intensive research into the possible \"candidate\" gene. In studies of families with one or more affected children, 97.5% of families are now fully informative, allowing a prenatal diagnosis by chorionic villus sampling in the 10th week and DNA-analysis, which will usually give now a diagnosis with a remaining risk of less than 1%. The microvillar enzyme test in amniotic fluid after amniocentesis in the 18th week will remain an alternative for couples who have a high prior risk, but are either not informative at DNA analysis, or where no information on a (deceased) index case (previous affected child) is available. The risk for a wrong classification is in the order of a few percent (in a 1:4 prior risk case) and careful discussion of the limitations are needed when this test is applied to cases with a lower prior risk. The linkage disequilibrium established for a number of RFLP's (Restriction Fragment Length Polymorphisms), as detected by various probes and various restriction enzymes around the CF locus has opened the possibility to refine the risk estimation of heterozygosity for individuals outside families with CF-affected children. The presence of certain haplotypes may change the risk for being CF heterozygote from +/- 1:7 to 1:250, as compared to a population risk of +/- 1:25.(ABSTRACT TRUNCATED AT 250 WORDS)","PeriodicalId":75408,"journal":{"name":"Acta paediatrica Scandinavica. Supplement","volume":"363 ","pages":"20-4"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/apa.1989.78.s363.20","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13843621","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

Epithelial cell dysfunction in cystic fibrosis: implications for airways disease. 囊性纤维化的上皮细胞功能障碍:对气道疾病的影响。

Acta paediatrica Scandinavica. Supplement Pub Date : 1989-01-01 DOI: 10.1111/apa.1989.78.s363.25

T F Boat, P W Cheng

引用次数: 38

The molecular basis of chloride channel dysregulation in cystic fibrosis. 囊性纤维化中氯离子通道失调的分子基础。

Acta paediatrica Scandinavica. Supplement Pub Date : 1989-01-01 DOI: 10.1111/apa.1989.78.s363.14

H R de Jonge

{"title":"The molecular basis of chloride channel dysregulation in cystic fibrosis.","authors":"H R de Jonge","doi":"10.1111/apa.1989.78.s363.14","DOIUrl":"https://doi.org/10.1111/apa.1989.78.s363.14","url":null,"abstract":"The opening and closing of chloride (Cl-) channels in the apical membrane of epithelial cells is regulated by hormones, neurotransmitters and enterotoxins (intestine) acting through a variety of intracellular messengers, including cyclic nucleotides (cAMP, cGMP), calcium (Ca) and diacylglycerol (DAG). The chloride impermeability of epithelial membranes observed in cystic fibrosis (CF) patients does not result from a defect in the Cl- conducting properties of the channel or in channel recruitment but stems either from a defect in a key regulator of the channel, presumably a phosphoprotein, or from the hyperactivation of a channel closing mechanism, presumably a protein phosphatase or a down-regulating protein kinase (i.e. protein kinase C). In vitro phosphorylation of isolated intestinal brush border membranes has revealed the existence of a 25,000 molecular weight proteolipid (p25) acting as cosubstrate for both cGMP- and cAMP-dependent protein kinases and cross-reacting with antibodies directed against the cytoplasmic tail of the band 3 anion exchanger from erythrocytes. The putative role of p25 in Cl- channel regulation and its relationship to an unidentified GTP-binding protein recently implicated in Cl- channel activation is discussed on the basis of a regulatory model indicating potential sites of the CF defect at a molecular level.","PeriodicalId":75408,"journal":{"name":"Acta paediatrica Scandinavica. Supplement","volume":"363 ","pages":"14-8; discussion 18-9"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/apa.1989.78.s363.14","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13843620","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: 3

Gene mapping in cystic fibrosis and its clinical applications. 囊性纤维化基因定位及其临床应用。

Acta paediatrica Scandinavica. Supplement Pub Date : 1989-01-01 DOI: 10.1111/apa.1989.78.s363.7

R Williamson

引用次数: 1

Strategies and perspectives in treatment of respiratory infections. 呼吸道感染治疗的策略与展望。

Acta paediatrica Scandinavica. Supplement Pub Date : 1989-01-01 DOI: 10.1111/apa.1989.78.s363.66

H J Neijens

引用次数: 5

Endobronchial infection in cystic fibrosis. 囊性纤维化的支气管内感染。

Acta paediatrica Scandinavica. Supplement Pub Date : 1989-01-01 DOI: 10.1111/apa.1989.78.s363.31

A L Smith, B Ramsey, G Redding, J Haas

引用次数: 14

Perspectives of neonatology. Introduction. 新生儿学观点。介绍。

Acta paediatrica Scandinavica. Supplement Pub Date : 1989-01-01

A Swensson, T Stapleton

引用次数: 0

Physiological growth hormone secretion and response to growth hormone treatment in children with short stature and intrauterine growth retardation. 矮小和宫内发育迟缓儿童生理性生长激素分泌及对生长激素治疗的反应。

Acta paediatrica Scandinavica. Supplement Pub Date : 1989-01-01 DOI: 10.1111/j.1651-2227.1989.tb17168.x

R Stanhope, F Ackland, G Hamill, J Clayton, J Jones, M A Preece

{"title":"Physiological growth hormone secretion and response to growth hormone treatment in children with short stature and intrauterine growth retardation.","authors":"R Stanhope, F Ackland, G Hamill, J Clayton, J Jones, M A Preece","doi":"10.1111/j.1651-2227.1989.tb17168.x","DOIUrl":"https://doi.org/10.1111/j.1651-2227.1989.tb17168.x","url":null,"abstract":"Physiological growth hormone (GH) secretion was examined in 31 children (8 girls, 23 boys) with short stature secondary to intrauterine growth retardation (IUGR). Seventeen (4 girls, 13 boys) had dysmorphic features of Russell-Silver syndrome. Four of the 31 children had GH insufficiency with peak GH levels of less than 20 mU/l during the night. Nine of the patients (8 of whom had Russell-Silver syndrome) had a single nocturnal GH pulse. Twenty-three children (6 girls, 17 boys) were randomized into two groups treated with either 15 or 30 U/m2/week of GH by daily subcutaneous injections. Age, sex distribution, pretreatment height velocity SD score (SDS), and distribution of dysmorphic and non-dysmorphic children were similar in both groups. The group treated with 15 U/m2/week for a mean of 0.82 years showed an increase in mean height velocity SDS from -0.61 to +1.09, and the group treated with 30 U/m2/week for a mean of 0.92 years showed an increase in mean height velocity SDS from -0.69 to +3.48. The results suggest that physiological GH insufficiency is probably common in children with Russell-Silver syndrome and that both dysmorphic and non-dysmorphic children with short stature secondary to IUGR will respond to GH treatment. Initial evidence suggests that the increase in short-term growth velocity does not result in an improved final height prognosis.","PeriodicalId":75408,"journal":{"name":"Acta paediatrica Scandinavica. Supplement","volume":"349 ","pages":"47-52; discussion 53-4"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1651-2227.1989.tb17168.x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13889092","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: 72