摘要:

The spingomyelinase activities of extracts of normal cultured skin fibroblasts were compared with those obtained from Niemann‐Pick disease Type A and B patients, and from a number of patients with a provisional clinical diagnosis of Niemann‐Pick disease Type C. Even though fibroblasts from Type A and B patients were shown to be clearly deficient (<5% residual activity) the activity in Type C fibroblasts varied from approximately 50% of the lowest control value to normal activity.Isoelectric focussing of extracts of normal cultured skin fibroblasts on polyacrylamide gels revealed the presence of sphingomyelinase heterogeneity. However, no characteristic change in the behaviour of the enzyme in corresponding extracts from Niemann‐Pick Type C cells was observed, suggesting that, if the defect in this condition is expressed in fibroblasts, it does not manifest biochemically in the appearance or disappearance of a specific sphingomyelinase isoenzyme.Our data suggest that the heterogeneity observed in fibroblast extracts may simply reflect an interaction of the enzyme either with itself or with other hydrophobic components present in the cellular ext

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00075.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Ade novo14/21 Robertsonian translocation and a familially inherited Y/15 translocation were observed in a male infant with anomalies of the external genitalia. The Y/15 translocation was confirmed by cultivating lymphocytes in a medium containing distamycin A and by determining the occurrence of the Y‐specific DNA sequences by means ofHaeIII restriction endonuclease analysis. Any connection between the structural chromosomal abnormalities and the symptoms of the infant is highly improbabl

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00076.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A new modification of currently utilized methods of processing cell cultures of whole peripheral blood for obtaining chromosome preparations necessary for differential staining (Q, G and C) is proposed. After the usual hypotonic treatment of cultures, a 3%‐5% aquaeous solution of glacial acetic acid is added to the cell suspension prior to fixation in order to completely destroy and wash out red cells, as well as for selective fixation of lymphocyte

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00077.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

2Department of Pediatrics, Groot Ziekengasthuis, 's Hertogenbosch, The NetherlandsA family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities of gonadotrophin and glycerol kinase. The clinical, biochemical and genetic findings in this exceptional family are reported and discussed.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00078.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A case of Monocephalus diprosopus, associated with craniorachischisis and duplication of most of the foregut derivates is presented. The major part of the cardiovascular system remained single but the heart exhibited severe defects, including a complete persistent atrioventricular canal, transposition of the great arteries and atresia of the pulmonary valve. This report further supports the hypothesis that certain types of incomplete twinning and neural tube defects may be caused by a single teratogenic mechanism.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00079.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Three families with Greig cephalopolysyndactyly are reported, the relationship with pre‐axial Polydactyly type IV and the acrocallosal syndrome is discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00080.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

An unusual association of Rothmund‐Thomson syndrome and hypertension is described. The histologic studies showed large narrowing and calcification of arteries at renal biopsy, thickenings of glomerular basement membranes and nodules of subendothelial basement membrane lamellae in arterioles by means of electron microscopy. The mechanisms of these morphologic alterations are discussed with regard to disturbances of collagenous and fundamental substances of metabolis

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00081.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A family in which four out of ten siblings affected by Usher's syndrome, with progressive hearing loss, is described. Two of the siblings had hearing loss while of school age, but two others first exhibited otological symptoms in their thirties. One of the siblings had retinitis pigmentosa, diagnosed before the hearing impairment became evident. The family seems to exhibit type III Usher's syndrome with unusual manifestations.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00082.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00083.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb00084.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY