Study of peroxisomal proteins in patients with Zellweger syndrome.
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Biomedical subjects
Publications and source records attributed to J Gärtner.
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In a questionnaire study including 44 AO-clinics in German speaking countries, we investigated frequencies and possible causes of skin lesions under the cuff occurring after surgery in a bloodless field. Though these lesions are hardly dealt with in the literature available, the number of legal claims made by patients for these lesions has significantly increased in recent years. What has to be clearly differentiated are the known changes deeply extending into the soft tissues we see in the tourniquet syndrome. The precise pathogenetic mechanisms of these lesions are unknown. The combination of fluid collecting under the cuff and pressure applied to the skin by the cuff seems to be a likely cause. The most important precautions for avoiding these skin lesions consist in correct application of the cuff and in sealing the edge of the cuff the way that at least distally it will be safely fluid-tight. Correspondingly, fluid must under no circumstances (disinfectants) be allowed to collect or pool between the operating table and resting parts of the body (sacral region!). Based on present knowledge it is not possible to safely avoid these typical skin lesions. Strict adherence to the precautions listed above and explained in more detail in the text should therefore lead to the rejection of legal claims brought in such instances.
The precise composition of calcific deposits in calcifying tendinitis is still unknown. However, analysis of such deposits can help to elucidate the disease's pathogenesis. Twenty-five calcific deposits from various phases of the disease were analyzed by several methods. The macroscopic appearance of the specimens during the acute phase of calcifying tendinitis resembled a milky emulsion; in contrast, it resembled a granular conglomerate during the chronic phase. X-ray diffraction showed a poorly crystallized hydroxyapatite lattice (resembling that in bone) in both phases. Infrared spectroscopy revealed variable H2O, CO3, and PO4 contents in all samples, but no significant differences in these proportions were seen in the two phases of the disease. Organic molecules were seen in addition in all samples. Scanning electron microscopy showed similar morphologies of the crystalline conglomerates of both phases, with somewhat round, nongeometric structures. The macroscopic difference was not reflected in the mineralogic structure. Neither a chemical compositional change nor a change in the crystal lattice was observed. The disintegration of the conglomerates probably depends on a change in the bonding capacity of the organic molecules, which in turn initiates phagocytosis in the resorptive phase.
The authors used transmission electron microscopy to examine the autonomic nerve plexus of the choroid, in Wistar albino rats with long-term streptozotocin diabetes. Axonal alterations included massive glycogen deposits, honeycomb arrangement of synaptic vesicles, and an accumulation of dense, lamellated, tubulovesicular and multivesicular bodies within the transmitter segments. The alterations affected not only the neuroeffector areas of arterial and venous vessels, but also the close contacts between transmitter segments and melanocytes. Morphometric analysis lead the authors to conclude that the axonal alterations do not simply represent accentuation of age-related phenomena. Instead, they should be considered as manifestations of diabetic autonomic neuropathy.
The storage material in neuronal ceroid-lipofuscinoses (NCL) apparently contains breakdown products of membrane lipids. The storage could be due to an unknown enzyme deficiency in the degradation of lipids or to an alteration of the lipid substrate within the plasma membrane. We investigated the membrane fluidity of intact lymphocytes in juvenile NCL (McKusick no. 20420) by steady-state fluorescence polarization. Fluorescent probes used were diphenylhexatriene (DPH), trimethylammonium-DPH (TMA-DPH), and a set of n-(9-anthroyloxy) fatty acids. Membrane fluidity was decreased in NCl (n = 12) vs. control lymphocytes when measured with the labels DPH, TMA-DPH, 6-, 7-(9-anthroyloxy) stearic acid, and 16- (9-anthroyloxy) palmitic acid (P less than 0.05). In order to check for the influence of anticonvulsants on membrane fluidity, we investigated 17 epileptic patients (without NCL) treated with anticonvulsants. Membrane fluidity was increased in these patients when measured with DPH and with the anthroyloxy probes. Our results indicate a decreased fluidity of the outer membrane leaflet in NCL lymphocytes which is independent of the effect of anticonvulsants.
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The author describes his own unilateral multifocal and recurrent central serous retinopathy (CRS). After 71 recurrences during the first 19 years, he photocoagulated the diseased macula three times by sungazing. There were no more recurrences after photocoagulation treatment during the last 10 years. Fluorescence angiography was performed 10 days before and 14 days after the first photocoagulation. At the time of the postoperative angiography, vision was restored from 0.5 to 1.2. The angiogram shows a hyperfluoresence of the "inkblot" type in the centre of the clinical macula, giving evidence that sungazing had produced a focal lesion of the retinal pigment epithelium. The absorption of a macular edema after creation of a "leak" by sungazing can be explained by the hypothesis (Marmor) that most "leaks" do not cause subretinal fluid but represent diffusion of fluorescein down a concentration gradient into the subretinal fluid. In addition to the treatment with solar photocoagulation, vitamin E was taken during the last 11 years. At present, 32 years after the onset of the disease, there is an extensive depigmentation of the macula. Visual acuity is 1.0.
This is a report of treatment, complications and results of 209 fractures of the femoral shaft: 114 compressions plates, 63 medullary nails, four fixateur externe, 28 vertical tractions after Weber. The most frequent complication after compression plate was the delayed fracture healing (5.9%) and the malrotation after medullary nails (8%). 2% of the cases developed an osteitis, no pseudoarthrosis was observed. All complications could be successfully treated by second operation. 92.8% of the long-term results could be judged as good to very good. The fixateur externe was rarely used, the vertical traction after Weber in childhood proved to be successful in spite of some complications.
The membrane fluidity of intact fibroblasts, erythrocyte ghosts, and intact lymphocytes from Duchenne muscular dystrophy (DMD) patients and controls was measured by steady state fluorescence polarization. The fluorescent probes used were diphenylhexatriene (DPH), trimethylammonium-DPH, and a set of n-(9-anthroyloxy) fatty acids. Fluorescence anisotropies in DMD fibroblasts and DMD erythrocyte ghosts were normal. In DMD lymphocytes (n = 10) fluorescence anisotropy of DPH was decreased versus controls (0.212 +/- 0.028 versus 0.231 +/- 0.012, p less than 0.05). Linear regression analysis of creatine kinase activity in sera and DPH fluorescence anisotropy in lymphocytes from DMD patients showed a negative correlation (r = -0.93, p less than 0.001). DMD lymphocytes and control lymphocytes were incubated for 4 h in sera from DMD patients and from controls. When incubated in DMD sera, DPH fluorescence anisotropy of DMD lymphocytes decreased from 0.211 +/- 0.018 to 0.180 +/- 0.028, and fluorescence anisotropy of control lymphocytes decreased from 0.239 +/- 0.012 to 0.179 +/- 0.025 reaching the same level as did DMD lymphocytes. When incubated in control sera, DPH fluorescence anisotropy of DMD lymphocytes increased to 0.224 +/- 0.012, and fluorescence anisotropy of control lymphocytes decreased to 0.218 +/- 0.017. The fluorescence anisotropy changes after incubation in DMD versus control sera were different (p less than 0.05 for DMD lymphocytes and p less than 0.005 for control cells). Our findings do not support the hypothesis of a general membrane defect but suggest a toxic serum factor in DMD which attacks lymphocyte membranes and possibly muscle membranes at the same time.
In the 16-day rat embryo and in 2 and 15 days old postnatal rats the macrophage- and fibroblast-like cells of the vitreus are not different from those of the developing leptomeninx. There is also no difference in the ultrastructure of the developing blood vessels. Both vitreus and leptomeninx are separated from the neuroectodermal tissues by a basal lamina. Regarding the embryonic development, the entire intraocular cavity except the lens, is a special cleared-out portion of the former mesenchymal tissues surrounding the central nervous system including the eye cup (meninx primitiva). It may be interpreted as analogous to a leptomeningeal cisterna. The largest part of this intraocular cisterna is the vitreus. The pathogenesis of diseases occurring simultaneously in the leptomeninx, the uvea, and the vitreus, possibly may have some relation to the common embryologic origin of the affected tissues.
The diameter of the fibrils in the normal vitreous cortex at the ora serrata of human eyes was found to range from 10.8 to 12.4 nm. There is no significant increase in thickness with age. Periodic cross-striation typical for collagen could be demonstrated by microdensitometry. In senile eyes, secondary lateral aggregations of the fibrils are a common factor, usually in proximity to disintegrating cells. Disintegrating cells in the vitreous cortex were already observable in childhood. They were more often seen with increasing age. In a pathological case, acid phosphatase could be demonstrated both within the vitreous fibrocytes and in the extracellular space, released from disintegrating cells. Fibrils and segments of banded material were observed within pits and invaginations, and in intracytoplasmic channels and vacuoles of the aged vitreous fibrocytes. Linear aggregations of ruthenium red-positive material were seen at the surface and within invaginations of the same cells. The findings are interpreted as an indication for phagocytosis and--or secretion of collagen by the vitreous fibrocytes even in senile eyes.
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Twelve months after onset of streptozotocin-induced diabetes in rats, the basal lamina width of peripheral retinal capillaries, as measured with two different morphometric methods, is increased only in the basal lamina regions adjacent to perivascular glial cells. In the region between endothelial cells and pericytes no increase of thickness was observed. These facts support the suggestion of a predominantly glial (neuroectodermal) contribution to basal lamina thickening of retinal capillaries in diabetes mellitus. No correlation exists between the degree of basal lamina thickening at the different anatomic sites. Furthermore, no clear-cut correlation was found between basal lamina thickening and severity of the metabolic disease.
A new type of vitreous fluorophotometer using a Haag-Streit 900 slitlamp is described. It offers a number of technical and operational advantages. In the photometric part, only commercially available components are used. The system has a custom-designed position indicator. A brief technical description of the calibration of the instrument is given.
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The present paper reports a comparative study on circulatory conditions of patients who underwent both electro-stimulation- and neurolept anaesthesia. Investigations were carried out in 20 patients who had operations on the retina or vitreous body, either under neurolept or electro-stimulation anaesthesia, and who had to undergo a second of those, so that both types of anaesthesia were administered in each patient. 50% of the patients were showing polymorbidity which is often observed in elderly persons; 5 of the cases were patients suffering from hypertonia which had previously been treated unsatisfactory. As measure for judging the circulatory conditions under either anaesthetic method, the plain measurable values of systolic and diastolic pressure and heart rate were registered. A statistical evaluation of the anaesthetic records was carried out with special consideration of circulatory stability and each method of anaesthesia in the individual group of patients. Concerning circulatory changes, significant variations on 1%- level were found.
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