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Biomedical subjects

H Zellweger

Publications and source records attributed to H Zellweger.

At least 37 records · Page 2Linked to original sources
PubMed1982

Twenty years-Iowa muscle clinic: reminiscences and prospects.

The activities of the last twenty years of the Iowa clinic for neuromuscular diseases are briefly reviewed. Main emphasis in this paper is on management and guidance of the patient with Duchenne muscular dystrophy (DMD) by the families, the school and the public at large. Guidance and treatment given to our patients is briefly described. It is well known that chronic debilitating disease affects not only the patient but the whole family; management of DMD should therefore include the parents and siblings of the patient. Preventability of DMD is illustrated by the experiences in our clinic. The importance of early carrier detection and genetic counseling is stressed. Possible future developments in DMD research are briefly mentioned.

Family↗
PubMed1981

Partial trisomy 13: the myth of nonmongoloid trisomy G.

Reexamination of the chromosomes of a patient previously reported as having trisomy 22 yielded a partial trisomy of chromosome 13. Observations led to the conclusion that not every trisomy of a small acrocentric autosome in an individual without mongoloid features represents trisomy 22. Chromosomal analysis, preferably with a high resolution banding, of the parents may help in establishing the correct provenance of the extra chromosomal fragment. The clinical picture of partial trisomy of the proximal portion of chromosome 13 is fairly typical, yet by no means pathognomonic.

Child↗
PubMed1980

Sporadic Duchenne muscular dystrophy in females; genetic counseling of women with pelvifemoral muscular dystrophy.

The first two cases of sporadic Duchenne muscular dystrophy (DMD) in females without a family history of DMD are reported. Both females had normal chromosomes and were identified as DMD by in vitro studies of protein synthesis by muscle ribosomes and by carrier studies of the mother of the proband. These observations are important for the genetic counselor. The possible diagnosis X-linked DMD has to be considered for every female with sporadic pelvifemoral MD, and carrier studies have to be requested for the proband's mother and possibly other maternal female relatives.

Adult↗
PubMed1977

Fibroblast cultures in Duchenne muscular dystrophy. Alterations in synthesis and secretion of collagen and noncollagen proteins.

Primary skin fibroblast cultures were grown from forearm pinch skin biopsies obtained from 24 patients with Duchenne muscular dystrophy (DMD) and ten normal controls matched for sex and age. The first subcultures were grown for 7 days and incubated with L-(3H)-proline for 24 hours. Intracellular collagen incorporation was significantly decreased (2.2 X) and extracellular collagen incorporation significantly increased (1.8 X) in fibroblast cultures from patients with DMD by both collagenase assay and polyacrylamide gel electrophoresis. The synthesis of noncollagen proteins showed low values from the DMD fibroblast cultures. The alterations in synthesis and secretion of collagen and noncollagen proteins were characteristic only for the log phase of DMD fibroblasts.

Cells, Cultured↗
PubMed1977

Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature.

A case of partial trisomy 14 (47, + 14q-) is presented. The proband's mother had a balanced translocation of 14q with the long arm of a No. 3 chromosome. Clinical and cytogenetic findings of this case are compared with 5 other cases of 47, + 14q-, in which one parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. It appears that this chromosomal aneuploidy produces a fairly typical clinical picture.

Chromosome Aberrations↗
PubMed1977

Protein synthesis in muscle cultures from patients with myotonic dystrophy. Influence of A23187 ionophore and calcium: preliminary investigation.

Muscle samples for cultures were obtained from the tibialis anterior by open biopsy under local anesthesia in 12 patients with myotonic dystrophy and 15 controls. Total protein synthesis in muscle cultures from patients with myotonic dystrophy showed a nonsignificant increase in (3H)-leucine incorporation. Addition of A23187 ionophore significantly stimulated the protein synthesis in muscle cultures from patients with myotonic dystrophy, but had an inhibitory effect in the cultures from controls. Myosin heavy chain synthesis was measured and found normal in all patients with myotonic dystrophy.

Anti-Bacterial Agents↗
PubMed1976

Detection of carriers and genetic counseling in duchenne muscular dystrophy by ribosomal protein synthesis.

The in vitro protein synthesis by polyribosomes extracted from biopsied muscle (vastus lateralis) was studied in 47 known carriers, 87 possible carriers and in 60 normal females. A significant increase in specific activity of monomeric ribosomes, total polyribosomes and collagen synthesis was found in 46 (97.8 per cent) known carriers and 47 (54 per cent) possible carriers of Duchenne muscular dytrophy. The latter showed an increase in ribosomal protein synthesis in 10 (52.6 per cent) of 19 mothers of isolated cases, 31 (53.3 per cent) of 58 sisters, and 6 (60 per cent) of other female relatives. Serum creatine phosphokinase was increased in 30 (63.8 per cent) of 47 known carriers.

Adult↗