Biomedical subjects
Publications and source records attributed to R Berger.
Cytogenetic findings on five patients with ALL Burkitt's type are reported. A t(8;14) (q23;q32) translocation identical to that found in Burkitt's lymphoma cells was found in each case. The relationship between ALL, L3 type and Burkitt's tumours is discussed.
A detailed gene marker study was performed on a partial 6p trisomic child resulting from a balanced maternal translocation t (2;6) (p 2505; p2105). HLA typing and mixed lymphocyte reaction showed that the breakpoint on chromosome 6 was located within the HLA gene cluster, allowing an accurate location of the D determinants. Localization of the P blood group locus within the region 6 p 2105 to 6 p ter was excluded.
Myopotential inhibition of demand pacemakers is a common phenomenon and is responsible for a greater degree of morbidity and possible mortality in patients with pacers. Significant electrical potentials generated by contracting muscle mass gain entry into the pacemaker circuitry causing inhibition of pacemaker activity. Intraoperative and bedside maneuvers can readily precipitate the problem and allow for accurate diagnosis. Holter monitoring frequently can also serve to establish the diagnosis. Pacemaker repositioning, replacement with a bipolar system, use of a fixed-rate pacemaker, and pacemaker "sleeves" are possible intraoperative therapeutic methods. External sensitivity adjustable pacemakers would seemingly allow for noninvasive solutions to the problem.
In 16 patients with cervical carcinoma (stages II and III) tumor-specific and general immune reactivity was investigated. Cancer patients' skin reactivity was different from that of controls insofar as there was a decreased response to streptokinase-streptodornase as well as to DNCB. Absence of DNCB sensitization was mainly in stage III patients. Cell-mediated immunity to autologous and/or allogeneic tumor-associated antigens (TAA) was demonstrated in vivo and in vitro. 3 of 8 patients had positive skin reactions to autologous TAA and 8 of 14 reacted to allogeneic TAA. In the lymphocyte migration inhibition test, 8 of 14 patients reacted to autologous tumor membrane preparations and 3 of 10 to allogeneic pooled preparations. In addition, there was some indication of cross-reaction with antigens from a human squamous cell carcinoma of the lung. There was no reaction in vitro to normal cervical tissue and no association between tumor-specific reactions and herpes simplex virus type II antibodies could be demonstrated. Patients with DNCB sensitization and in vivo as well as in vitro lymphocyte reactivity to TAA had a better prognosis than nonreacting patients, indicating the value of combined immunological tests.
The chromosomes of an Epstein-Barr virus-negative European Burkitt's lymphoma cell line were studied. All the cells carried the t(8;14) translocation. One clone had 51 chromosomes and was (+1,+7,+16,+15,+21), whereas another clone also had 51 chromosomes but was (+1q+,+7,+16,+15,+21). A third clone had 46 chromosomes (4q+/-).
Seven acute promyelocytic leukemias (APL) were compared with three atypical acute myeloblastic leukemias (AML). These three AML were characterized by high hyperleukocytosis, mostly formed of monocytelike myeloblasts, disseminated intravascular coagulation syndrome, and a t (15;17) translocation in the majority of leukemic cell mitoses. This translocation was inconsistently found in typical APL defined as M3, according to the FAB classification.
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The diagnostic value of gliadin antibody determination using the fluorescent immunosorbent test was examined in a prospective study of 57 children with gastrointestinal disease. Antibodies to gliadin were found in all 20 patients with active coeliac disease, whereas 7 of these children (37%) had a normal xylose absorption test despite a flat small gut mucosa. Only 4 (14%) of 28 children with other gastrointestinal conditions had antibodies to gliadin, invariably in low titre. After at least 2 years on a gluten-free diet none of 9 children with coeliac disease in remission had demonstrable gliadin antibodies. The gliadin antibodies disappear slowly, within 6 to 24 months, after withdrawal of gliadin from the diet. 0.8% (5/606) of a healthy control group of children, adolescents and adults (not biopsied) had gliadin antibodies in low titre. Increased mean cow's milk antibody titres were demonstrable in 8 (40%) of 20 patients with active coeliac disease as well as in 9 (32%) of 28 patients with other gastrointestinal lesions. Our studies show that determination of circulating gliadin antibodies is a worthwhile screening test in suspected cases of coeliac disease. In patients so selected there is a definite indication for small intestinal biopsy to confirm the diagnosis.
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The expression of the H-Y antigen has been tested on several human lymphoid lines and mouse teratocarcinoma cell lines during differentiation. The human male lymphoid cell line Raji is a very useful target for studies of the H-Y antigen by lymphocytotoxicity test with rat anti-H-Y sera. With a few exceptions, all cells carrying the Y chromosome were H-Y positive. One of the exceptions is the human Daudi cell line which, besides lacking H-Y antigen, also lacks beta2-microglobulin. We have studied a possible association between the H-Y antigen, beta2-microglobulin, and HLA antigen with redistribution experiments. The results strongly suggest that H-Y antigen is not associated with HLA antigens but with beta2-microglobulin.
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A new case of chronic myeloid leukaemia with a complex translocation involving chromosomes No. 1, 9 and 22 is reported. The striking similarity of this case with another previously reported case and the involvement of band 9q34 in chromosome rearrangements in CML patients indicates clearly a non-randomness of chromosome abnormalities in this blood disease, even when the translocation is different from the usual t(9;22) one. The usefulness of R-banding techniques is emphasized in these cases.
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The course of pyruvate dehydrogenase deficiency in an infant is described. During pregnancy fetal movements were reduced, and since birth severe neurologic involvement was noticed. Permanent metabolic acidosis due to lactic acidemia as well as hyperpyruvic acidemia and hyperalaninemia were present. Alanine accumulated in CSF and urine, urinary excretion of lactate and pyruvate was highly elevated. Pyruvate dehydrogenase activity in a liver biopsy was only 5% of that for normal controls, and pyruvate decarboxylation by cultured fibroblasts was equally decreased. Therapy required permanent administration of bicarbonate. The administration of thiamine had no effect. The infant died within three months. Recently prenatal diagnosis during a subsequent pregnancy of the mother revealed normal results when pyruvate degradation with cultured amniotic fluid cells was investigated, and a healthy child was born.
Chromosome C variants have been analyzed in individuals with hematological disorders. The incidence of chromosome 1 gh+ was significantly enhanced in CML patients (20/24) compared with controls (8/17). The distribution of C-variants of chromosomes 9 and 16 was not different in these individuals.
1. The development of pyruvate dehydrogenase and citrate synthase activity in rat brain mitochondria was studied. Whereas the citrate synthase activity starts to increase at about 8 days after birth, that of pyruvate dehydrogenase starts to increase at about 15 days. Measurements of the active proportion of pyruvate dehydrogenase during development were also made. 2. The ability of rat brain mitochondria to oxidize pyruvate follows a similar developmental pattern to that of the pyruvate dehydrogenase. However, the ability to oxidize 3-hydroxybutyrate shows a different developmental pattern (maximal at 20 days and declining by half in the adult), which is compatible with the developmental pattern of the ketone-body-utilizing enzymes. 3. The developmental pattern of both the soluble and the mitochondrially bound hexokinase of rat brain was studied. The total brain hexokinase activity increases markedly at about 15 days, which is mainly due to an increase in activity of the mitochondrially bound form, and reaches the adult situation (approx. 70% being mitochondrial) at about 30 days after birth. 4. The release of the mitochondrially bound hexokinase under different conditions by glucose 6-phosphate was studied. There was insignificant release of the bound hexokinase in media containing high KCl concentrations by glucose 6-phosphate, but in sucrose media half-maximal release of hexokinase was achieved by 70mum-glucose 6-phosphate 5. The production of glucose 6-phosphate by brain mitochondria in the presence of Mg(2+)+glucose was demonstrated, together with the inhibition of this by atractyloside. 6. The results are discussed with respect to the possible biological significance of the similar developmental patterns of pyruvate dehydrogenase and the mitochondrially bound kinases, particularly hexokinase, in the brain. It is suggested that this association may be a mechanism for maintaining an efficient and active aerobic glycolysis which is necessary for full neural expression.