Biomedical subjects
Publications and source records attributed to M Kardos.
Results of inversion in the intron 22 region of the VIII factor gene studied by Southern blot are presented. Inversion was found in 20 of 46 patients. In 14 cases (70%) distal and in 6 cases (30%) proximal type of inversion was detected. The significance of the positive result in genetic counseling and in presymptomatic diagnosis of Haemophilia A is emphasized.
Chlamydia trachomatis infection has been investigated in the prostate gland using in-situ DNA hybridization and transmission electron microscopy. Sixty-four samples of tissue removed by trans-urethral resection or by open surgery from men with benign prostatic hypertrophy (BPH), were examined histologically and 20 of the cases were found to be positive for mononuclear cell infiltration. Some samples were then investigated using in-situ hybridization and transmission electron microscopy. Out of 20 tissue samples with mononuclear cell infiltration, nine were found to be positive for C. trachomatis infection.
(Preliminary methodical report). In situ hybridization of Chlamydia trachomatis in formalin fixed, paraffin embedded specimens from the Urology Clinic were performed in 2nd Department of Pathology Semmelweis University of Medicine by a biotin labelled DNA probe. Chlamydia trachomatis is suspected to be responsible for the chronic abacterial inflammation of the prostate besides Ureaplasma urealyticum and Mycoplasmae. According to our retrospective study out of 79 biopsy specimens 34 had the diagnosis of chronic abacterial prostatitis. We examined 11 specimens of them. Bacteria were not identified. Three specimens were positive for Chlamydia trachomatis which were improved by transmission electron microscope. The age of patients was between 59 and 81 years. The detection of chlamydia infection rises the suspicion of a "healthy" career and especially at younger age could cause Chlamydia trachomatis associated genital disease. The undiagnosed and untreated diseases may lead to infertility.
The case histories of two patients with acute lymphocytic leukemia, who developed central nervous system complication during combined chemotherapy are described. The neurological picture could be characterized by symptoms of headache, mental deterioration, hemiparesis and seizures. Following L-asparaginase administration one patient had intracranial thrombosis with focal seizures and hemiparesis associated with clotting abnormalities, including severe hypofibrinogenemia and decreased antithrombin III activity. In the other patient, it was after intrathecal administration of Methotrexate when mental deterioration associated with the symptoms of progressive leukoencephalopathy occurred. It arises the possibility that with increasing complexity of combined chemotherapy the occurrence rate of neurological complications will also increase.
The case history of a 15 year old boy in whom thrombosis of the internal carotid artery was associated with severe disseminated intravascular thrombosis (DIC) is described. Both peripheral blood smear and bone marrow aspirate revealed acute myelogenous leukemia FAB M-2 type as the cause of the disease. Consumption coagulopathy is common sign of hemostasis disturbances in leukemia. It is frequently observed in acute promyelocytic leukemia, but rarely it may be seen in the other forms of hemoblastosis, too.
The head is a very rare primary site for Ewing's sarcoma which occurs most often in the long bones of the extremities and in the pelvis. This report describes an unusual case of Ewing's sarcoma arising from the occipital bone in a seven year old girl. The tumour compressed the venous sinuses, thus lowering the intracranial pressure resulted in temporary recovery which made the diagnosis difficult.
This case report concerns a child admitted to the County Hospital of Zalaegerszeg with the symptoms of ataxia, focal convulsions and hemiparesis. Anticonvulsive therapy abolished the epileptic manifestations, but hemiparesis remained unchanged. At the age of six and half years progressive venous thrombosis developed first on the left and some days later on the right lower limb. Phlebography revealed on both sides thrombosis of the vena iliaca which led to stenosis of the right femoral vein and dilated venous collaterals on the abdomen and right thigh. Coeliacography showed an enlarged spleen and varicosity around the portal vein. Later thrombosis of the arteria dorsalis pedis developed indicated by the gangrene the fifth toe. At this stage the child was transfered to the Pediatric Department of the University of Pécs for further evaluation. Examination of the hemostasis showed hypercoagulability due to antithrombin III deficiency pointing towards a common cause, namely thromboembolism of the earlier and recent clinical manifestations. A reduced activity of the antithrombin III was also observed in the mother and two sisters of the child. The response to Syncumar therapy was beneficial, arterial thrombosis regressed and no further thromboembolic complications developed.
Mitral valve prolapse and severe gastroesophageal reflux with hiatal hernia were found in a girl aged 2 years, 4 months with Cohen syndrome. The clinical manifestations suggest the presence of a connective tissue disorder in the patient.
A 7-year-old gypsy girl developed venous and arterial thromboembolism. In this case AT III deficiency of hereditary nature was demonstrated as the cause of thromboembolism.
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Intravenous glucose tolerance tests were performed in 33 obese and 12 nonobese children. In addition to the glucose disappearance rate the changes in response to the glucose load in plasma insulin, FFA, glycerol, cholesterol, triglyceride, lactate and pyruvate were examined. The relationship between biochemical parameters and the glucose disappearance rate was also studied. 1. Reduced glucose tolerance, basal and glucose-induced hyperinsulinaemia were frequent in the obese children. 2. Normal or reduced glucose tolerance in spite of the apparent hyperinsulinaemia and the negative correlation between fasting insulin level and KG in the nonhypertriglyceridaemic obese group was the marker of insulin resistance in overweight children. 3. The reduced elevation of FFA in the 2nd hour of the intravenous glucose tolerance test might be the sign of an impaired lipolysis in obesity. 4. The significant negative correlation found between KG, fasting FFA and triglyceride levels in certain obese subgroups suggested the importance of FFA and triglyceride in the regulation of peripheral glucose utilization.
The metabolic and hormonal effects of glucagon infusion (6 micrograms/kg/h) for three hours were studied in obese children. Glucagon caused a sustained hyperglycaemia and hyperinsulinaemia and a lower than normal (non-obese) growth hormone response. Plasma triglycerides, cholesterol, glycerol and the majority of the free amino acids showed a significant decrease in comparison with the controls, while free fatty acids showed a moderate decrease. Glucagon administration revealed some hormonal and metabolic abnormalities of obesity. The effect of glucagon-induced insulin secretion and the action of pharmacologic doses of glucagon have, however, to be considered in the interpretation of the metabolic effect of glucagon.
All lipid and lipoprotein fractions except for total cholesterol were found to be high in diabetic children under long-term treatment. There was a positive correlation between HDL-cholesterol, HbA1a-c and the insulin dose. In untreated diabetic children, plasma triglyceride and its subfractions were also high, but phospholipids were normal. Total plasma cholesterol was normal, but its VLDL + LDL subfraction was increased and HDL-cholesterol low. After two months of insulin-treatment, parallel with the decrease of HbA1a-c, the HDL-cholesterol increased and there was a drop in the level of triglycerides. It is concluded that HDL-cholesterol is a good parameter of metabolic control during the initial therapy of diabetes. In patients under long-term treatment there is no such a simple relationship between control and HDL-cholesterol and the daily insulin-dose seems to play an important role in the regulation of plasma HDL-cholesterol.
The behaviour of plasma glucose, immunoreactive insulin, growth hormone and adenosine 3',5'-monophosphate (cAMP) in response to glucagon infusion was investigated in obese and control children. Hyperinsulinaemia and low growth hormone levels were found in the obese group. Hyperinsulinaemia did not prevent the glucagon-induced cAMP release in obese children. The plasma cAMP concentration decreased after the first hour of glucagon infusion in both groups. The decline of cAMP concentration was more rapid in the obese group than in the controls, resulting in a significantly lower plasma cAMP level at the end of the glucagon load.
Fasting plasma immunoreactive insulin, triglyceride, free fatty acid, cholesterol, glycerol, blood glucose, lactate, pyruvate level, and lactate/pyruvate ratio were measured and an intravenous glucose tolerance test was done in obese and control children. The levels of most of the metabolites and the glucose tolerance were similar in the two groups except for the higher immunoreactive insulin and triglyceride levels in the obese group. Further metabolic alterations could be detected when the obese children were divided into subgroups on the basis of fasting insulin and triglyceride levels, and of glucose tolerance. Only three significant correlations were found between metabolic parameters and anthropometric measurements when the obese group was treated as a whole, but numerous other positive and negative correlations were detected in the subgroups. The most striking and unexpected finding was the negative correlation between cholesterol and free fatty acids and some indices of fatness in the whole obese group and in some subgroups. It is concluded that obese children ("exogenous obesity") cannot be regarded as a metabolically homogeneous group and the correlations between anthropometric parameters and plasma metabolites remain to be controversial.
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