Biomedical subjects
Publications and source records attributed to R Goebel.
The case of monosomy 18/ring chromosome 18 mosaicism which was detected prenatally by amniocentesis is presented. The pregnancy was terminated in week 18. Autopsy showed complex malformation of the fetus consisting of cebocephaly, hypotelorism, microphthalmia, severe defects of brain development, and arrest of placental maturation.
To demonstrate the indication for surgery, the preoperative and postoperative course, and to assess the influence of thoracoplasty on respiratory physiology, the data of patients subjected to thoracoplasty during the past 30 years at our hospital were evaluated. Final assessment was performed separately for patients with and without preceding pulmonary resection. In 21 cases there was an unspecific empyema of the pleura and in 6 cases a specific one; in 14 cases there was also a concomitant bronchopleural fistula. After a washing-out period of 92 days (24-283) and after surgery had been unsuccessful in 9 patients, standard thoracoplasty was performed, complemented by a "jalousie" ("Venetian blind") plasty after Heller. Postoperative lethality was 11.1%. 5 patients developed pleuro-cutaneous fistulas that healed by local treatment; in one patient, a small residual cavity remained that required an additional plasty for correction. In 94% of the patients who had been operated upon, scoliosis occurred convex to the thoracoplasty; this was more marked in patients in whom lung resection had been performed than in patients without resection. Restrictive ventilatory disorders were seen in the lung function of 55% of the patients, whereas mixed restrictive-obstructive disorders occurred in 45%. Ergospirometry resulted under load besides in an increased respiratory minute volume (AMV), in a proportionate dead space of the AMV which was significantly higher than preoperatively. Despite the considerable functional and aesthetic consequences resulting therefrom, thoracoplasty still has its justification in refractory pleura empyemas as an ultimate means of cleaning up.
This paper describes the conceptual framework and preliminary results of an outcome-oriented decision-support system prototype for the cardiovascular intensive care unit (CVICU). The major characteristics of this design include: (1) its problem-based approach to solving clinical problems; (2) an integrated structure with the hospital information system in terms of its data, model and knowledge bases; (3) proposed alternative modes of interaction that include monitoring and critiquing; (4) and research modules that design, manage, and analyze outcome-based clinical studies. At present, an initial prototype has been implemented on a PC as a set of modules accessible from a main menu. The structural framework of the overall system is fairly well defined but only limited quantitative, statistical and expert knowledge has been captured. The second phase of the project involves porting the prototype to a Unix workstation environment, refining and adding models to the model base, expanding its knowledge bases, reasoning capability, and testing the prototype with actual clinical cases in a real-time fashion.
The practicability of rapid karyotyping of spontaneous abortions by short-term culturing of chorionic villi is demonstrated in a large clinical study. 836 samples from spontaneous abortions were karyotyped successfully. Pathological findings were found in a rate of 48.8% whereby 54% of these were observed in week 10-11 of pregnancy. With increasing maternal age, the frequency of abnormal karyotypes also increased. Most of the pathological findings were trisomies, followed by polyploidies and monosomies. Correlation between maternal age and the type of aberration was observed. Chromosomal normal abortions were dominated by 46,XX abortions. The advantage of the described method of rapid karyotyping is the fact, that by knowing the karyotype of an abortion, a suitable concept of therapy can be chosen. Furthermore, a quick diagnosis has a positive effect on the psychological state of a patient, following a spontaneous abortion.
Altogether, 750 cases of spontaneous abortion between the fifth and 25th week of gestation were analyzed cytogenetically by the direct-preparation method using chorionic villi. The majority of cases (68%) were derived from early abortions before the 12th week of gestation. The frequency of abnormal karyotypes was 50.1%; trisomy was predominant (62.1%), followed by triploidy (12.4%), monosomy X (10.5%), tetraploidy (9.2%), and structural chromosome anomalies (4.7%). Among trisomies, chromosomes 16 (21.8%), 22 (17.9%), and 21 (10.0%) were prevalent. The frequency of chromosomally abnormal abortions increased with maternal age but only because of an increase of trisomy. Polyploidy and monosomy X, however, decreased. Mean maternal age was significantly increased for trisomies 16, 21, and 22 and was highest for trisomies 18 and 20. The results obtained are within the range of variability reported earlier from tissue culture-type studies. A consistent feature during our study is the excess of females in chromosomally normal abortions (male:female sex ratio 0.71). According to the methodology applied, maternal cell contamination and undetected 46,XX molar samples cannot have influenced the sex ratio. However, a bias introduced by social status or maternal age cannot be excluded. With the more rapid and convenient direct preparation of chorionic villi, reliable cytogenetic data on causes of spontaneous abortions can be obtained.
Chorionic villus samples from a healthy pregnant female were obtained for first-trimester prenatal diagnosis. A translocation trisomy 21 was diagnosed. A consecutive amniocentesis revealed a normal male karyotype. At term a healthy boy was born. Cytogenetic analysis from cord blood showed a regular karyotype of 46,XY, whereas in term placenta a pathological karyotype of 47,XY, +mar was found.
The case of an 18-year-old woman with a 47,XY,+13 karyotype in lymphocytes and a 45,X0 karyotype in all other tissue analyzed is presented. The proposita shows no stigmata of the Patau syndrome and no masculinization.
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The validity of the free thyroid hormone parameters (FT4 and FT3) was verified in a random sample of 154 ambulatory patients with thyroid conditions. The "euthyroid range" of FT4 was between 15.67 and 30.66 pmol/l; median 21.98 pmol/l. The distribution of the FT4 readings peaked on the left and sloped to the right (log normal). In our laboratory, the "euthyroid reference range" of FT4 is between 10-28 pmol/l. The "euthyroid range" of FT3 extended from 4.6 to 9.7 pmol/l; median 6.63 pmol/l. The distribution of the readings was likewise log normal. The values of FT4 and FT3 are not significantly influenced by TBG concentration anomalies in otherwise healthy thyroid patients. For purposes of discrimination between euthyroidism and hyperthyroidism, FT3 (95%) and FT4 (90%) are better suited than the corresponding quotients for the free hormone fraction or the total hormone concentrations. On the other hand, the free hormone parameters are less suitable for the diagnosis of hypothyroidism. These results were deduced theoretically from mathematical function analyses between the TBG-independent free hormone parameters and the TBG-dependent hormone concentrations.
In groups of 8 patients each, the increases in pancreatic polypeptide (hPP) serum level were measured after a protein-rich test-meal; one group received an infusion of 200 IU Salmon-calcitonin for a period of 3 hour while the other group did not. Calcitonin causes a significant inhibition of both the basal and the stimulated hPP serum level. Among the patients who did not receive a calcitonin infusion, the stimulated values after 15 to 120 minutes were significantly higher than the initial values, while patients receiving calcitonin did not show a significant increase. With calcitonin, the area under the secretion curve was 43% smaller. yet, on the basis of our results, the known gastrointestinal effects of calcitonin on pancreas secretion cannot be completely explained by the observed inhibition of hPP secretion.
In acute and chronic left heart failure peripheral resistance is elevated due to increased sympathetic tone. This should compensate the decrease in stroke volume. In the diseased left ventricle however the augmentation of afterload leads to further reduction of stroke volume and to increase of heart size and myocardial oxygen consumption. This vitious cycle may be interrupted by vasodilators. Drugs like nitroglycerin, mainly acting on the venous system, reduce preload and thereby relieve symptoms of pulmonary congestion (backward failure). Phentholamin on the other hand primarily reduces afterload by an action on the resistance vessels and thereby increases cardiac output (forward failure). Nitroprusside has effects on both, the capacity and resistance vessels. So nigroglycerin is the remedy of choice in acute pulmonary edema. Nitroprusside in leftf heart failure in acute myocardial infarction and Phentolamin in acute left ventricular failure due to critical rise in blood pressure. For long term treatment of chronic left heart failure (coronary heart disease, cardiomyopathy, rheumatic heart disease) hydralazin or prazosin may be used as well as long acting nitrates.
A defective organification of iodine is demonstrated in a two year old male infant. The availability and a relatively simple radiation detector and storage system (gamma camera and 1600 word memory) gives a reasonable low radiation dose, allows correction for extrathyroid neck activity and obviates problems of collimation.
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24 diabetics without any complications were subjected to an exercise test before and after biguanid therapy. The schedule of the physical strain was a modification of the Kaltenbach diagram. Changes of lactate, pyruvate, pH-standard bicarbonate and base excess values were analysed. Additionally to antidiabetical therapy each of the 8 patients was given either metformin or buformin or phenformin now. Each one of the biguanid derivates induced a rise of the lactate level before and after the exercise test. Phenformin showed the greatest influence on the lactate metabolism, metformin the smallest. Reasons causing the lactogene effect and the quantitative differences of the biguanides are discussed.
Chromosome analysis in a newborn, the daughter of diabetic parents, who showed multiple dysmorphic signs and malformations revealed direct duplication of a long arm segment of chromosome 3(3q2100 leads to 3q2700). Both parents have normal karyotypes. Compilation of the phenotype stigmata with those of 7 other patients and 1 fetus with partial trisomy 3q confirmed that clinical recognition of this syndrome is possible. It is characterized by hypertrichosis, typical craniofacial dysmorphia, frequent organ malformations and skeletal anomalies, as well as a peculiar dermatoglyphic pattern. It is a severe genetic disturbance, leading to death in the first months of life in many cases and only symptomatic care is advised.
Adriamycin (doxorubicin), an active antineoplastic drug, is rapidly distributed across cell membranes and is concentrated within cells. Binding to protein and to tissue readily occurs. The drug is metabolized to both fluorescent and nonfluorescent compounds, the liver being the main organ of biotransformation and elimination. A multicompartment, open model that accounts for these processes has been derived. The model assumes an initial volume of distribution of 60% of body weight and includes two peripheral adriamycin compartments and a subsystem for adriamycinol, a major metabolite. Plasma and urine concentrations of adriamycin and adriamycinol were determined for four patients treated with adriamycin (60 mg/m2), and these concentrations were used to calculate rate constants for the model. Concentrations were measured by fluorescence assay after thin-layer chromatographic separation of parent compound and metabolites. Differential equations were solved by the SAAM computer program. Evaluation of adriamcinol pharmacokinetics suggests that the previously reported high concentrations of adriamycinol immediately after IV infusion of adriamycin are an artifact of the fluorescence method and that observed plasma concentrations of adriamycinol are the sum of adriamycinol concentrations and approximately 10% of the adriamycin concentrations. Corrected peak plasma concentrations of adriamycinol occur 2--12 h after infusion of adriamycin.
Serum iron, an iron absorption test, transferrin and serumferritin were investigated in patients with malignant disease. A positive correlation was found between increased serumferritin and decreased transferrin and the clinical tumor staging in single cases of acute leukemia and in advanced tumor stages.