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Results for “Nail-Patella Syndrome”

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At least 19 recordsLinked to original sources
PubMed1979

[Diagnostic progress in familial nephropathy. Alport's syndrome, nail-patella syndrome and benign familial hematuria (author's transl)].

Progress in the field of morphology and new insights in human genetics, have led to the early diagnosis of hereditary nephropathy in growing number of cases. Light microscopic findings are not specific. Using electron microscopy, however, cases with primary lesions of the peripheral glomerular basement membrane (Alport's syndrome, benign familial hematuria, nail-patella syndrome) exhibit pathognomonic morphologic changes even in early stages of the disease. Electron microscopy is thus the only effective diagnostic method in suspicious cases.

Adult↗
PubMed1979

[Osteo-onychodysostosis. One more report about a family case (author's transl)].

A 9 year-old boy takes medical advice because of underdevelopment and intellectual insufficiency. The diagnosis of osteo-onychodysostosis (nail-patella syndrome) clinically expected is confirmed by X-ray examination. The main radiological signs of this disease are reminded of. You can also find a few remarks about family contex, frequency of the lesions and heredity.

Child↗
PubMed1976

Assignment of the AK1:Np:ABO linkage group to human chromosome 9.

In man-Chinese hamster somatic cell hybrids the segregation patterns of the loci for 25 human enzyme markers and human chromosomes were studied. The results provide evidence for the localization of the gene for adenylate kinase-1 (AK1) on chromosome 9. Since the loci for the ABO blood group (ABO), nail-patella syndrome (Np), and AK1 are known to be linked in man, the ABO:Np:AK1 linkage group may be assigned to chromosome 9.

ABO Blood-Group System↗
PubMed1976

Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man.

The segregation of human enzymes and chromosomes has been studied in more than 30 independent primary human-rodent somatic cell hybrids and a series of 64 subclones. The results strongly suggest that the locus determining AK1, 'red cell' adenylate kinase, is on chromosome 9 in man, and hence that the locus for the ABO blood groups and that for the Nail-patella syndrome may also be assigned to this chromosome. Evidence is presented indicating that another adenylate kinase, nucleoside triphosphate adenylate kinase, and also the soluble form of aconitase, are probably syntenic with AK1, and that the mitochondrial form of aconitase is probably not syntenic with these loci.

Aconitate Hydratase↗
PubMed1976

[Dislocation of patella also a symptom of other diseases or consequence of local primary alteration of the scelet (author's transl)].

According to a large group of patients there is demonstrated the "symptomatic" dislocation of patella. It is a part of a system-disease, especially Onycho-osteo-arthro-dysplasia. Arthrogryposis multiplex. Freeman-Sheldon-syndrome, mongolism and children with debility or imbecility. There are discussed their pathogenesis and any consequences for diagnosis and treatment.

Abnormalities, Multiple↗
PubMed1979

Roentgenographic and clinical signs in yellow nail syndrome.

The yellow nail syndrome is a rare condition consisting of thickened opaque yellow nails, lymphedema and respiratory symptoms such as bronchitis or pleural effusions. In a 25-year-old woman, presenting all clinical signs of this syndrome, lymphangiography revealed impaired lymphdrainage of both legs. Both, number and size of the lymph vessels and regional lymph nodes were found to be reduced and several extravasations of the contrast medium were noted. Lymphangiography may help to establish the diagnosis of yellow nail syndrome, especially if the assocation of clinical anomalies is incomplete.

Adult↗
PubMed1977

The Nail Patella syndrome--a report of a family.

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.

Adolescent↗
PubMed1978

Radiological abnormalities associated with anomalies of the ninth chromosome.

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.

Chromosome Aberrations↗
PubMed1978

[Electron microscopy: A clinically useful, desirable or useless tool in kidney biopsy diagnostics? (author's transl)].

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.

Biopsy↗
PubMed1976

Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34.

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.

ABO Blood-Group System↗
PubMed1979

Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

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.

Aconitate Hydratase↗