Biomedical subjects
Publications and source records attributed to M Luedemann.
The gene encoding the E1 alpha subunit of branched chain alpha-ketoacid dehydrogenase was mapped to human chromosome 19. 32P-labeled human E1 alpha cDNA was hybridized with DNA derived from flow-sorted human chromosomes; it hybridized exclusively with that from chromosome 19.
Historical and clinical aspects of chromosome analysis by flow cytometric methods are reviewed. A new method of preparing small samples (1.0 mL of blood) of peripheral lymphocytes for flow karyotype analysis using phytohemagglutinin and interleukin-2 is presented in detail. Figures of flow karyotypes, partial banded karyotypes, and idiograms of patients with inv(8), rec dup(8), rob t(14;21), and t(1;22) are presented, as well as examples of univariate and bivariate flow histograms from other researchers' published works. The clinical utility of these techniques is explored, with specific reference to recent work in chromosome polymorphisms and cultured amniocyte lines. We conclude that, although flow karyotyping is not a replacement for classical banded chromosome analysis, used as an adjunct, this new technique has some clinical usefulness relating to its capability to resolve small differences in chromosomal DNA content.
Human testis-specific lactate dehydrogenase-C (LDHC) gene-related sequences are located with the LDHA gene on chromosome 11. The LDHB gene is on chromosome 12. Chromosomes 1, 2, 4, 9, and 10 appear to contain LDHA gene-related sequences, whereas the X chromosome and chromosome 13 possess LDHB gene-related sequences.
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Three patients (ages 3, 5, and 8 years) with various forms of functionally univentricular heart lesions received a total cavopulmonary connection with an extracardiac conduit as a final reconstructive procedure. Failure of the Fontan circulation occurred immediately after surgery because of spontaneous closure of surgical fenestrations in two children and absent fenestration in one. As an emergency procedure, in all patients the conduit was perforated by transcatheter intervention in order to create a connection to the anatomical right atrium. Following balloon dilatation of the perforated conduit, in all three patients covered stent grafts were placed in the newly created defect to attain a reliable communication. Patency of the fenestration was demonstrated by angiogram and any leakage was ruled out. Cardiac output improved and severe pleural effusion and ascites subsided. Right-to-left shunt could be demonstrated by echocardiography at follow-up after 7 months (median) in all three patients. Oxygen saturation remained stable between 85 and 90%. These preliminary results suggest that stent graft fenestration can serve as a valuable tool in failing Fontan circulation, particularly in patients with an extracardiac conduit. Covered stents have the potential to reduce the acute risk of bleeding and they help to prevent early spontaneous closure of the newly created fenestration.