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R Frisch

Publications and source records attributed to R Frisch.

46 records · Page 3Linked to original sources
PubMedDate not supplied

Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.

Myotonic dystrophy (DM), an autosomal dominant neuromuscular disease, is associated with expansion of a polymorphic (CTG)n repeat in the 3'-untranslated region of the DM protein kinase (DMPK) gene. The repeat expansion results in decreased levels of DMPK mRNA and protein, but the mechanism for this decreased expression is unknown. Loss of a nuclease-hypersensitive site in the region of the repeat expansion has been observed in muscle and skin fibroblasts from DM patients, indicating a change in local chromatin structure. This change in chromatin structure has been proposed as a mechanism whereby the expression of DMPK and neighboring genes, sine oculis homeobox (Drosophila) homolog 5 (SIX5) and dystrophia myotonica-containing WD repeat motif (DMWD), might be affected. We have developed a polymerase chain reaction (PCR)-based method to assay the chromatin sensitivity of the region adjacent to the repeat expansion in somatic cell hybrids carrying either normal or affected DMPK alleles and show that hybrids carrying expanded alleles exhibit decreased sensitivity to PvuII digestion in this region. Semiquantitative multiplex reverse transcriptase PCR (RT/PCR) assays of gene expression from the chromosomes carrying the expanded alleles showed marked reduction of DMPK mRNA, partial inhibition of SIX5 expression from a congenital DM chromosome, and no reduction of DMWD mRNA. Nested RT/PCR analysis of DMPK mRNA from somatic cell hybrids carrying the repeat expansions revealed that most of the DMPK transcripts expressed from the expanded alleles lacked exons 13 and 14, whereas full-length transcripts were expressed predominantly from the normal alleles. These results suggest that the CTG repeat expansion leads to a decrease in DMPK mRNA levels by affecting splicing at the 3' end of the DMPK pre-mRNA transcript.

Cells, Cultured↗
PubMedDate not supplied

[Intraoperative autotransfusion in extensive orthopedic interventions].

In large orthopaedic operations massive blood losses sometimes can hardly be avoided. Apart from other autotransfusion methods (repeated preoperative withdrawal of blood or isovolaemic haemodilution) the intraoperative autotransfusion (IAT) has proved particularly useful. By means of the autotransfusion system Haemonetics Cell Saver, whose functional performance is described in the following, there was a decrease in homologous erythrocytes of 60.5 l, that is more than 300 erythrocyte concentrates. With regard to the intraoperative period the average reduction in donor blood for each patient was between 68.0 and 94.8%. Considering the compensation of postoperative blood losses there was a decrease in donor blood of between 55.6 and 66.2%. The importance of this reduction in donor blood (decreased hepatitis risk and better quality of the autologous erythrocytes) is discussed. On close and critical examination of advantages and disadvantages concerning the intraoperative autotransfusion, we have to give the preference to the Haemonetics Cell Saver, especially in the orthopaedic range.

Blood Transfusion, Autologous↗
PubMedDate not supplied

[Evolutive stages of the iliac compression syndrome (Cockett's syndrome) (author's transl)].

The term of Cockett's syndrome stands for a lower limb dysfunction with venous stasis originating from the left common iliac compression by the right common iliac artery at the pelvis inlet level. For the authors, there are three evolutive stages. First stage: a simple compression without any anatomic venous parietal lesion. Second stage: to the previous, are added left common iliac vein lesions consisting of an inner vascular band formation. This must be surgically treated to remove the obstacle. Third stage: the final evolution: the ilio-femorale thrombosis. Therefore, the diagnosis must be done as early as possible. It lies on the left lower limb phlebography.

Adult↗