Lege Artis Medicinae

[INSIGHT]

MATOS Lajos

MAY 20, 2001

Lege Artis Medicinae - 2001;11(05)

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[Molecular morphological methods in laboratory medicine]

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[Today, the increasing technical arsenal of molecular morphology has not only methodological importance, but also a revolutionary role in diagnostic laboratory medicine. Techniques previously used only in basic research have become widespread in routine diagnostics by now. The development of methodology for detection of genetic alterations has enabled laboratory tests not only to define disease associated pathobiochemical alterations, but also to identify the genetic background of diseases as well. Evolution of these methods caused qualitative changes not only in detection of disease specific alterations, but also in revealing increased individual susceptibility (sometimes at population level) indicating genetic predisposition to the disease. Recently, the classical methodology based on genetic microscopic morphology has been gradually supplemented or even replaced by different in situ hybridization techniques in many laboratories. Using these techniques chromosomal alterations in cells and tissues (including tumor cells) can be detected within one day (or maximum 1-2 days) without in vitro manipulation of cells. These improved techniques allow us to monitor chromosomal changes after the treatment of genetic diseases or define these alterations induced by environmental exposures.]

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DEMETER Pál, SIKE Róbert, SZÉKELY György, KISS Sándor, SZILVÁS Ágnes

[Ischemic colitis is mainly caused by the impaired circulation of the inferior mesenteric artery. Most frequently it occurs as part of general arteriosclerotic disease or impaired left ventricular function, but it may also occur after abdominal aortic reconstruction. In connection with cocaine users, thrombophylia and vasculitis can also happen among young patients. Colonoscopy plays the most important role in making the diagnosis. In case of transitional ischemia conservative treatment is recommended, but surgery is needed in the progressive gangrenous form or when stricture in the colon developed. Authors describe the case of an 80-year-old man and discuss the etiology, clinical aspects, classical and up-to-date methods of diagnostics and the possibilities of conservative treatment.]

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[Complex pathological diagnosis of breast cancer and the patient care based on it over the past 20 years]

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[The diagnosis of breast cancer has become more complex in the past 20 years. Intraoperative diagnosis has been mostly replaced by multidisciplinary preoperative/ nonoperative diagnostics. Surgical treatment can be planned in advance for the breast as well as for the axilla. In many cases, routinely performed radical surgery has been replaced by selectively applied, less radical, conservative operations (sectoral or wide local excisions, sentinel lymph node biopsy) that are suitable for smaller tumours mostly detected by screening. In addition to prognostic markers listed in the pathology reports (lymph node status, tumour size, vascular invasion, status of resection margins), an increasing emphasis has been placed on predictive markers (estrogen receptors, progesterone receptors, HER-2, basal and proliferation markers) that allow molecular typing of breast carcinomas and that mostly influence systemic treatment. Tools to predict the efficiency of treatment have become increasingly available, and these might also help in planning neoadjuvant therapies, a modality which has also been introduced in the past 20 years. The present article gives a brief, subjective, thematic insight into some of these changes, selected on the basis of their relation to the pathological diagnosis of breast carcinoma.]

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GÁL István, GLANT T. Tibor, MIKECZ Katalin

[INTRODUCTION - The CD44 molecule - the physiologic hialuronic acid receptor - is one of key mediators that direct the traffic of leukocytes into inflamed tissues. When applied in animal models of autoimmune arthritis, parenteral anti-CD44 antibody treatment exerts a dramatic antiinflammatory effect, but at high doses also a leukopenic effect. The goal of the present work is to elucidate the cellular basis of these phenomena. METHODS - In this study the authors used Western blot, immunoprecipitation, cell adhesion studies, flow chamber system studies (leukocyte rolling) and fluorescence microscopy following fluorescent labeling of actin cytoskeleton. RESULTS - Adhesion of CD44-expressing leukocytes to immobilized hialuronic acid does not result marked changes in cellular morphology. When incubated on immobilized anti-CD44 antibody, however, these cells spread, reorganize the actin cytoskeleton, and they adhere strongly to the surface. Studying the mechanisms of signal transduction, the authors found that engagement of CD44 with anti- CD44 antibody results in its enhanced association with numerous cytoskeletal regulator proteins, including ezrin, ankyrin, spectrin and focal adhesion kinase, thereby increasing the interaction between the cytoskeleton and the plasma membrane. Strong adhesion of the cells to immobilized anti-CD44 also prevents the rolling movement of these cells, mediated by CD44-hialuronic acid interactions, which precedes the extravasation of leukocytes to sites of inflammation. CONCLUSION - These results may provide insight into the antiinflammatory mechanisms of anti- CD44 antibody treatment. Based on these results and results published by other investigators, anti- CD44 antibodies may be uselful in the immunotherapy of rheumatic diseases.]

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[Genetic background of epilepsies]

KELEMEN Anna, SZŰCS Anna, RÁSONYI György, JANSZKY József, HOLLÓ András, HALÁSZ Péter

[In this article we review epilepsies with monogenic inheritance. Most of these diseases are caused by abnormal function of ligand- and voltage gated ion channels caused by a genetic defect, therefore belonging to the channelopathies. From the inherited epilepsies the genetics of the autosomal dominant partial epilepsies is clarified the best. Mutations of the nicotinic acetylcholine receptor subunits are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage gated potassium channels (KCNQ2 and KCNQ3) have been identified in benign familial neonatal convulsions. Familial temporolateral epilepsy was associated with mutations of a tumor suppressor gene. From the generalized epilepsies, the syndrome of generalized epilepsy with febrile seizures plus (GEFS+) can be caused by mutations of the sodium channel subunits and of the GABAA receptor subunits. These important results would probably lead to new findings in the genetics of the more common forms of idiopathic generalized epilepsies, which have presumed polygenic origin. Although without definite conclusions, sodium channel and GABA receptor dysfunction is presumed. The accumulated knowledge about channelopathies enables insight to the cellular mechanism of epileptogenesis as well.]

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Burning mouth syndrome: Evaluation of clinical and laboratory findings

HALAC Gulistan, TEKTURK Pinar, EROGLU Saliha, CIKRIKCIOGLU Ali Mehmet, CIMENDUR Ozlem, KILIC Elif, ASIL Talip

Background and purpose - Burning mouth syndrome is a chronic and persistent painful condition characterized by burning sensation in the oral mucosa. We investigated the etiological factors of patients presented with the history of burning in the mouth who admitted our outpatient clinics over the 8-years period and who had no underlying identifiable local factors. We also tried to determine their demographic and clinical characteristics. Our aim was to investigate the association between burning mouth and psychiatric disorders such as depression and anxiety, chronic diseases like diabetes mellitus (DM) and other laboratory studies in patients complaining of solely burning in the mouth. Methods - The study included patients with the history of burning in mouth who presented in our outpatient clinic between 2005 and 2012. They were evaluated by a neurologist, a psychiatrist, an internist, and a dentist. Complete blood counts, biochemical analysis and cranial magnetic resonance imaging (MRI) were performed for all patients. Results - A total of 26 (22 (84%) females, 4 (15%) males; mean age 55.9 years) patients were enrolled in this study. Five (19.2%) of the patients had depression, 2 (7.7%) had anxiety disorder, 2 (7.7%) had diabetes mellitus, 8 (30%) had B12 vitamin deficiency, 3 (11.5%) had decreased ferritin levels in blood, and 1 (3.8%) had folic acid deficiency. Cranial MRI of all patients were normal. Nine patients (34.6%) had no etiological causes. Conclusion - A multidisciplinary approach in the management of burning mouth and establishment of common criteria for the diagnosis would provide insight into the underlying pathophysiological mechanism.