INDICATION OF PRIMARY IMMUNE DEFICIENCY IN FANCONI'S ANEMIA

Abstract. A girl with various congenital malformations developed pancytopenia and hypoplastic bone marrow at the age of 6 years. A chromosome study of lymphocytes showed numerous breaks, gaps and rearrangements, allowing the diagnosis of Fanconi's anemia. Treatment with corticosteroids and splenectomy did not result in hematologic remission. Repeated immunologie studies showed increasingly deficient T cell function as judged by lymphocyte transformation studies and skin test reactivity, whereas T cell number, T/B cell ratio, immunoglobulins, complement factors and neutrophil function were normal. A severe Pneumocystis carinii pneumonitis developed, but was successfully treated with pentamidine, sulfametoxazole with trimetoprim and transfer factor. Improvement of T cell function followed transfer factor therapy. Combined therapy with corticosteroids and androgens caused partial remission of the hematoiogic abnormalities. The probability of a primary immune deficiency in the patient is discussed.     

ASSESSMENT OF LUNG FUNCTION ON HEALTHY CHILDREN USING AN ELECTRONIC SPIROMETER AND AN AIR-FLOWMETER BEFORE AND AFTER INHALATION OF AN ADRENERGIC RECEPTOR STIMULANT

Abstract. VC measured with a Monaghan electronic spirometer equipped with a backflow valve is significantly lower (about 4%) than when measured with the same spirometer without such a valve. The measurements of FEV_1.0 were not influenced by the valve. 73 healthy children were investigated with the Monaghan spirometer equipped with the backflow valve and normal reference data were established. The results were very similar to those obtained in an investigation of healthy children with the same spirometer about one year earlier. Reference data on children for a simple flow meter, Airflometer (Glaxo Ltd.), are given. The data correlated very highly to the FEV_1.0 values obtained by the Monaghan spirometer. After inhalation of salbutamol healthy children had a small and significant increase of FEV_1.0 and of the Airflometer value but not of VC. The deviations of the differences were small. A 6% increase of VC and 10% increase of FEV_1.0 were taken as normal upper limits after inhalation of salbutamol. Corresponding increase of the Airflometer values was 15 arbitrary units for children with body heights 116–145 cm and 21 units for children with body heights 146–175 cm.     

SOMNAMBULISM IN CHILDHOOD-PREVALENCE, COURSE AND BEHAVIORAL CORRELATIONS

ABSTRACT. prevalence, course and behavioral correlations. Acta Paediatr Scand, 71: 495, 1982.–The occurrence and course of somnambulism and its correlations with behavioral variables have been investigated annually from 6 to 16 years of age in a sample recruited by random means. The prevalence was highest at 11-12 years. No sex difference was found. Apart from sporadic occurrences, the longitudinal data reveal a group of children for whom somnambulism is rather persistent. But even in this group the somnambulism is usually unrelated to other sleep disturbances (apart from "bad" dreams), deviant behavior or known environmental factors. These children have more inhibited aggression and a more developed mental defence against anxiety as determined by Rorschach tests. At school they appear to be more popular than other children.     

Turbulent Stresses Downstream of Porcine and Pericardial Aortic Valves Implanted in Pigs

Because late valve-related complications such as hemolysis and thromboembolic events are considered related to flow disturbances caused by the inserted valve, velocity fields downstream of aortic valve prostheses were studied in pigs. Acute hemodynamic evaluation of size 25-mm porcine and pericardial aortic valve prostheses 1 diameter downstream of the valve ring was performed using dynamic three-dimensional visualization of velocity profiles and spatial distribution of turbulence. Point blood velocity signals obtained with a 1-mm hot-film anemometer needle probe were used to compute Reynolds normal stresses (RNS) by calculation of the turbulent velocity energy of the axial velocity component in the systole. The porcine valves caused a skewed velocity and turbulence profile revealing mean spatial systolic RNS at 70 nm-2 +/- 35 nm-2 (+/- SD). The spatial maximum RNS was 275 +/- 139 nm-2. Corresponding values for the pericardial valves were 20 +/- 11 nm-2 and 72 +/- 46 nm-2. The pericardial valves revealed plug-shaped velocity profiles and turbulent profiles with slightly higher RNS values at the stent posts. From a hemodynamic point of view, these acute studies indicate superiority of the pericardial valves compared to the porcine valves. The turbulent stresses found in this study are of a magnitude that may cause blood corpuscular and endothelial damage.     

Glucosyltransferase activity in human in vivo formed enamel pellicle and in whole saliva

Abstract – Two hour in vivo formed enamel pellicle samples and paraffin wax-stimulated saliva samples were collected from 10 volunteers for analyses of glucosyltransferase activity (GTF). GTF activity was recorded by monitoring incorporation of radioactivity from ¹⁴C-glucose labeled sucrose into glucan. Pellicle and saliva samples from all 10 subjects demonstrated GTF activity. The GTF activity in the pellicle samples was highest in subjects, with high GTF activity-producing adhesive glucan in saliva.     

Catecholamine Release after Physical Exercise

ABSTRACT A simple and practical provocative test is needed for early asymptomatic pheochromocytoma, which is a major risk for patients with multiple endocrine neoplasia type 2 (MEN-2). We measured plasma catecholamines before and after submaximal exercise in 26 MEN-2 gene carriers, eight of whom with asymptomatic pheochromocytoma, nine with medullary thyroid carcinoma and 10 after uni- or bilateral adrenalectomy. Seventeen clinically healthy individuals and 11 patients with neurovegetative lability and symptoms mimicking pheochromocytoma served as controls. Plasma adrenaline, noradrenaline and dopamine increased after excercise except for adrenaline after bilateral adrenalectomy. The post-exercise levels of adrenaline and the adrenalineldopamine ratio were significantly higher in the pheochromocytoma patients compared to the healthy controls and the patients with neurovegetative lability, while the patients with medullary thyroid carcinoma represented an intermediate group with a high probability of developing adrenal tumors. The present method is a physiological test with a high sensitivity and specificity. It is practical and well suited for repeated examinations and seems to be of value for the detection of early pheochromocytoma in MEN-2 patients. Furthermore, the test could be used in the differential diagnosis between pheochromocytoma and neurovegetative lability.     

Incidence of Deep Vein Thrombosis in Bedridden Non-surgical Patients

ABSTRACT. In order to detect deep vein thrombosis (DVT), 101 patients with acute medical or infectious disorders were examined with the ¹²⁵I-fibrinogen uptake test. All patients were bedridden on admission and were scanned daily from the second to the eighth day. Thirteen patients developed a positive fibrinogen uptake test. Thus, if a positive test is interpreted as DVT, the incidence of DVT was 13% in our bedridden patients. Of the patients admitted because of heart disease or pneumonia 20% had DVT, but only 4% of those admitted with other diagnoses. Other clinical “risk factors” studied, could not identify patients who developed DVT.     

Electrophysiological Characteristics of Bipolar Membrane Carbon Leads With and Without Steroid Elution Compared With a Conventional Carbon and a Steroid-Fluting Platinum Lead

In a controlled study, the following four bipolar leads with passive fixation were implanted in 46 patients with the Siemens-MuItilog-VVI or Sensolog-VVIR-pacemakers: membrane covered activated porous carbon with steroid elution (Siemens 1402 T, 11 patients) and without (Siemens 1403 T, 15 patients); activated carbon (Siemens 1010T, 10 patients); and platinum with steroid elution (Medtronic CapSure 5026, 10 patients). Stimulation threshold (STH) (assessed by a vario-test), impedance (IMP), and the intracardial R wave potential (IRW) (both gauged by a telemetric method) were measured 1, 5, and 10 days as well as 3 and 6 months after implantation during unipolar and bipolar stimulation, chronaxie rheobase product (CBP) and energy consumption (EC) were systematically determined. Differing insignificantly at the first day after implantation, STH is significantly lower for the 1402 T and CapSure 5026 leads at the tenth day. However, the 1402 T lead shows a significant increase of STH in the follow-up, in contrast to the other leads. The lowest chronic STH was found in the CapSure 5026 lead (CRP is significantly lower in all other leads, too). IMP is significantly lower in the CapSure 5026 lead compared to 1010 T lead. EC does not differ significantly during chronic stimulation in spite of the best possible programming of pulse amplitude and duration. No significant changes of IRW were observed. Unipolar versus bipolar stimulation shows significantly lower STH, CRP, and IMP, differences of EC and IRW were insignificant. In conclusion, the addition of steroid in membrane covered carbon leads protracts the increase of STH, but does not prevent it. The CapSure 5026 lead shows advantageous stimulation characteristics, but energy consumption is not significantly reduced because of low impedance and impossibility of programming an appropriate low output in Multilog pacemakers.