SEARCH · PubMed Health
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
This report describes two cases of the Nail Patella Syndrome with renal involvement. Pathological studies include immunochemistry, light microscopy, immunofluorescence and electron microscopy. The possibility of secondary immune damage to altered glomerular basement membrane is suggested as a cause of the progressive renal disease which occurs in some of these cases.
The clinical and radiological features of Trisomy of the short arm of the ninth chromosome and of the Nail Patella Syndrome, both of which conditions are related to abnormalities of the ninth chromosome, are compared. Dislocation of the head of radius is seen in both conditions, as is a diminished patello condylar ratio. Several of the features described as being sporadic anomalies in the Nail Patella Syndrome are also seen in some patients with Trisomy of the Ninth Chromosome. The Trisomy 9 group also have several anomalies which are shared with Trisomy 21, Trisomy 17/18, Trisomy 13/15 and Trisomy 4, suggesting that some of these changes are a non-specific result of chromosome abnormality rather than being specific to the Trisomy 9.
The authors report on two familial observations of hereditary onycho-osteo-dysplasia and review the principal characteristics of this syndrome. Only one of the three reported cases presented the classical dysplastic tetrad. The other two suffered only from three associated anomalies (absence of elbow dysplasia). No renal involvement was observed. Dominant autosomal transmission was confirmed, in addition to a linkage with ABO blood groups. Finally, the authors emphasise the identity of phenotypic expression found in the cases studied.
Electron microscopic investigation of renal biopsies is indispensable in cases of suspected Alport's syndrome, benign (familial) hematuria, nail patella syndrome as well as for the identification of viruses, virus-like endothelial tubular structures and crystalloid deposits in cryoglobulinemia. Additional valuable information is provided for all other glomerular nephropathies especially for exact classification of glomerulonephritis. Electron microscopy can by no means be a substitute for light microscopy or immunofluorescence, respectively. Provided that clinical-pathological cooperation is optimal, best results can be obtained by simultaneous application of all three methods.
Quantitative red cell adenylate kinase (AK-1) assay has been used in 8 patients with partial duplication or deletion of chromosome 9 in an attempt to find the precise intrachromosomal location of the structural gene locus. All regions of chromosome 9 are represented in abnormal dosage in at least one patient. A 43% increase in AK-1 activity was found to be associated with duplication of the terminal band of the long arm of chromosome 9. Duplication of all other parts of chromosome 9 were associated with normal enzyme activity. These findings not only confirm the assignment of the AK-1 locus to chromosome 9 made previously in somatic cell hybrids, but suggest a more precise assignment to region 9q33 leads to qter. This places the ABO:Np-1:AK-1 linkage group at the distal end of the long arm of chromosome 9.
Explore the source record for details and available documents.
An anomaly of the pelvis consisting of a unilateral iliac horn is presented. It appeared as an isolated bony malformation which was not associated with signs, symptoms, or stigmata of hereditary onycho-osteodysplasia.
Explore the source record for details and available documents.
The authors describe a typical, non familiar case of nail-patela-elbow syndrome, in which was found malformation of the nails and bones involving mainly the Knees and elbows, together with spondylolisthesis of the spine at the level L5-S1. There were no renal, ocular or psychic alterations.
A new method is presented for studying the relationship between human recombination fractions and parental age at the time of conception. Assuming the sex specific recombination fraction to be a linear function of age, a feasible computer algorithm is described whereby the likelihood of multigenerational families can be calculated. Using this method and the likelihood ratio test, it is found that for the ABO:nail-patella linkage age (P= .17)is more significant than sex (p= .23) in its effect on the recombination fraction. The age effect, if it is real, appears to be limited to males: the paternal recombination fraction decreases by .0062(+/- .0036) per year.
Somatic cell hybrids were derived from the fusion of (1) Chinese hamster cells deficient in hypoxanthine guanine phosphoribosyltransferase (HPRT) and human cells carrying an X/9 translocation and (2) Chinese hamster cells deficient in thymidine kinase (TK) and human cells carrying a 17/9 translocation. Several independent primary hybrid clones from these two series of cell hybrids were analyzed cytogenitically for human chromosome content and electrophoretically for the expression of human markers known to be on human chromosome 9. The results allow the assignment of the loci for the enzymes galactose-1-phosphate uridyltransferase (GALT), soluble aconitase (ACONs), and adenylate kinase-3 (AK3) to the short arm of chromosome 9 (p11 to pter) and the locus for the enzyme adenylate kinase-1 (AK1) to the distal end of the long arm of human chromosome 9 (hand q34). Earlier family studies have shown that the locus for AK1 is closely linked to the ABO blood group locus and to the locus of the nail-patella (Np) syndrome. Thus the regional localization of AK1 locus permits the localization of the AK1-Np-ABO linkage group.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.