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Biomedical subjects

M Bugge

Publications and source records attributed to M Bugge.

66 records · Page 4Linked to original sources
PubMed1981

Monozygotic twins discordant for exstrophy of the urinary bladder.

A pair of monozygotic male twins discordant for ectopia vesicae urinariae is described. There is no reason to think that any exogenic factors contributed to the aetiology. There was no consanguinity and no history of congenital anomalies on either side of the family. Published reports concerning family incidence and twin reports are reviewed.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases.

Balanced complex chromosomal rearrangements (BCCR) encompass a heterogeneous group of rare chromosomal aberrations. In this paper, we report three cases of BCCRs. In two the probands were referred for either genetic counseling or prenatal management. One case was ascertained after chromosome analysis performed because of psychiatric manifestations; this was an isolated finding. We also outline the molecular cytogenetic techniques, which were essential in confirming and precisely delineating the BCCRs identified in these patients. In addition the various aspects of genetic counseling for this type of chromosomal rearrangement, highlighting the details particular to each individual case are discussed. We discuss the classification for this type of chromosomal mutation.

Abnormalities, Multiple↗
PubMedDate not supplied

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.

Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mosaicism. We report the results on analyses of 26 probands (and parents) using 19 microsatellite DNA markers mapping along the length of chromosome 8. The 26 cases represented 20 live births, four spontaneous abortions, and two prenatal diagnoses (CVS). The results of the nondisjunction studies show that 20 cases (13 maternal, 7 paternal) were probably due to mitotic (postzygotic) duplication as reduction to homozygosity of all informative markers was observed and as no third allele was ever detected. Only two cases from spontaneous abortions were due to maternal meiotic nondisjunction. In four cases we were not able to detect the extra chromosome due to a low level of mosaicism. These results are in contrast to the common autosomal trisomies (including mosaics), where the majority of cases are due to errors in maternal meiosis.

Child↗
PubMedDate not supplied

Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions.

OBJECTIVE: To determine the origin of the extra chromosome in trisomy 8 in spontaneous abortions. METHODS: We analyzed 4 cases of nonmosaic trisomy 8 in 1st-trimester spontaneous abortions and their parents with DNA polymorphism analysis using microsatellite DNA markers. RESULTS: In 3 cases the extra chromosome was maternal in origin and in 1 case paternal in origin. In 2 of the cases the nondisjunction had occurred in maternal meiosis, while the other 2 cases were consistent with a postzygotic (mitotic) origin of the additional chromosome. CONCLUSION: Although a small number of cases studied, these results suggest differences from the common autosomal trisomies 21, 18, 16, and 13 where the vast majority of cases are due to errors in maternal meiosis.

Abortion, Spontaneous↗
PubMedDate not supplied

Amino acids and indoleamines in the brain after infusion of branched-chain amino acids to rats with liver ischemia.

Rats with a portacaval anastomosis and ligation of the hepatic artery 2 days later were infused for 6 hr with a 10% glucose solution (group I) or the same solution combined with 0.24 M/liter branched-chain amino acids (BCAA, group II). Control animals with portacaval anastomosis and sham-operation (group III) or two sham-operations (group IV) were infused with a 10% glucose solution. The rats were killed by decapitation and indoleamines and amino acids were determined in the brain. Rats with liver ischemia were stuporous at the end of the experiment irrespective of treatment. The concentrations in the cortex of lysine, methionine, phenylalanine, threonine, alanine, glutamine, glycine, histidine, and tyrosine were significantly increased in group I compared to group IV. Infusion of BCAA to rats with liver-ischemia (group II) resulted in significantly lower concentrations of lysine, methionine, phenylalanine, threonine, histidine and tyrosine and increased concentrations of isoleucine, leucine, valine, and arginine compared to group I. The content of serotonin in the cortex and brain stem was significantly increased in group I compared with the BCAA-treated animals (group II) and the control groups III and IV. The concentrations of 5-hydroxyindoleacetic acid (5-HIAA) in the cortex and brain stem were higher in group I than in group IV. Infusion of BCAA to rats with liver ischemia normalized the concentrations of 5-HIAA in the cortex and brain stem.

Amino Acids↗
PubMedDate not supplied

Serotonin metabolism in the central nervous system in portacaval shunted rats infused with fat emulsion.

Increased brain concentrations of tryptophan, and presumably thereby increased brain serotonin metabolism, have been observed following liver impairment and implicated in the etiology of portal-systemic encephalopathy (PSE). Increased plasma-free tryptophan (ie, not albumin-bound) concentrations can be expected after exogenous fat administration. This might further increase the brain serotonin metabolism in liver failure and negatively influence the PSE. We treated rats 2 weeks after end-to-side portacaval shunt (PCS) with continuous intravenous infusion of fat emulsion (Intralipid 20%) for 24 and 72 hr, respectively. The regional serotonin turnover was determined in different regions of the central nervous system (CNS) by measuring 5-hydroxyindole concentrations after NSD 1015 decarboxylase inhibition. The results revealed no further increase of the CNS serotonin turnover after fat infusion to PCS rats, compared with PCS rats given equal amounts of glucose. Thus, continuous infusion of a fat emulsion caused no major alteration of the CNS serotonin metabolism in PCS rats.

Animals↗
PubMedDate not supplied

Serotonin receptors in the brain following total hepatectomy in rats treated with branched-chain amino acids.

Serotonin concentrations and receptor binding characteristics were investigated in rats subjected to total hepatectomy, portacaval shunt (PCS) or sham-operation. The animals were infused for 5 hr with a 10% glucose solution or the same solution enriched with 0.24 M branched-chain amino acids (BCAA). Hepatectomized animals were in grade-two coma at the end of the experiment independent of infusion. Indoleamines in mesencephalon-pons and diencephalon were analyzed by high-pressure liquid chromatography with electrochemical detection. Serotonin receptors (5-HT1 and 5-HT2) were investigated in the cortex and hippocampus by radioligand binding studies using 3H-serotonin for analysis of 5-HT1-receptors and 3H-ketanserin for analysis of 5-HT2-receptors. Concentrations of serotonin (5-HT) and 5-hydroxyindoleacetic acid (5-HIAA) were significantly increased after hepatectomy compared with controls. Treatment with BCAA significantly decreased 5-HT and 5-HIAA levels in hepatectomized animals. The affinity and the number of binding sites for the 5-HT1 and 5-HT2 receptors were found to be similar in all groups. The present study indicates that PCS for 1 week and the anhepatic state for 5 hr in rats do not influence brain serotonin receptors in contrast to previous studies in pigs with liver ischemia or rabbits with galactosamine-induced liver damage. In addition, infusion of BCAA for 5 hr did not alter the binding characteristics.

Amino Acids, Branched-Chain↗
PubMedDate not supplied

Primary malignant cardiac tumors.

Our experience with primary malignant cardiac tumors is reviewed. Six adult patients were treated surgically during a 10-year period. A preoperative diagnosis of cardiac "tumor" was established in all cases by means of echocardiography. Surgery was possible in each case. Adjuvant therapy was also used. All patients died between 3 weeks and 43 months from the first operation. The importance of an aggressive surgical attitude and the role of adjuvant therapy is discussed.

Adult↗