Lege Artis Medicinae

[Expedition to the land of origin]

MOHOS Márta

FEBRUARY 20, 2001

Lege Artis Medicinae - 2001;11(02)

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Lege Artis Medicinae

[The role of steroid hormones in the protection against oxidative stress]

BÉKÉSI Gábor, FEHÉR János

[The incidence of vascular diseases increases in postmenopausal women. This negative trend seems to be controllable favourably by hormone replacement therapy (HRT). Based on the free radical mediated mechanism of atherogenesis the authors try to find the reasons for these observations on the basis of their and others’ data. They consider the increase of activity and amount of neutrophil enzyme myeloperoxydase by certain steroid particulars one of the most important elements of the vasoprotective effect of HRT. This increase diminishes the production of superoxide anion by the inhibition of the NADPH-oxidase enzyme. The observation proved firstly by the authors, that the plasma levels of myeloperoxydase - and so the ability for the inhibition of superoxide anion production by neutrophils - decreases in elderly people, might explain the higher incidence of some free radical mediated illnesses in the elderly. The authors also give a short review of antioxidant effects of steroids in general.]

Lege Artis Medicinae

[The importance of vitrectomy in the management of diabetic retinopathy in proliferative stage]

BERECZKI Árpád

[Vitrectomy is a closed microsurgical technique, by which intraocular tissue, blood and foreign bodies can be removed through a small incision in the pars plana with an automated suction-cutting device (vitrectom), while maintaining normal or slightly elevated intraocular pressure. This technique requires many accessory instruments (microscope, endoillumination, intraocular instruments, endolaser). The main application of vitrectomy is the treatment of severe complications in diabetes mellitus: diabetic retinopathy in the proliferative stage. Vitrectomy is indicated in diabetic retinopathy for the removal of intraocular bleeding and for the treatment of complications of diabetic proliferative vitreoretinopathy (recurring bleeding, tractional and rhegmatogenous retinal detachment). In the case of intraocular bleeding, early vitrectomy is better than delayed, providing good visus (V: 0,5) in 25% of all patients (based on literature data). In retinal detachment cases of tractional origin, surgery provides satisfactory visus for self-care in 2/3rd of all patients.]

Lege Artis Medicinae

[Alphabetic index 1991-2000]

Lege Artis Medicinae

[„There should be someone to hold the hand of the dying!” Deep interviews on the difficulties of caring for the dying]

BOGNÁR Tamás, KOLOSAI Nedda, HEGEDÛS Katalin, PILLING János

Lege Artis Medicinae

[Gastrointestinal stromal tumor]

GONDA Gábor

[Gastrointestinal stromal tumors were subject of much controversy in the last decades. This type of tumors was delineated from the leiomyoma - leiomyosarcoma group. GISTs show variable histological picture, moreover, they are capable of dual (neurogen and myogen) differentiation as it is proved by immunohistochemical and ultrastructural studies. These tumors have relatively good prognosis, only 10-30% of them is malignant, although it is difficult to predict their behaviour in a given case. The most reliable signs of malignancy - cytological pleoimorphism, high mitotic activity, proliferation index above 10 %, and aneuploid DNA content - are generally accepted. The treatment of choice is excision, but not enucleation. Radical surgery is not necessary, since lymph node metastasis is exceptionally rare. Further investigations revealed electronmicroscopical and immunohistochemical (CD 34, CD 117) similarities of tumor cells and interstitial cells of Cajal (ICC) located in the wall of the bowel. The results of these investigations led to the theory that cells of GIST and ICCs are of the same stem cell origin. Molecular genetic studies are also of great help in the differential diagnosis and in predicting the prognosis of GISTs. Mutations in the c-kit gene can not be detected in leiomyomas, so they are thougt to be specific for GISTs. Mutation of exon 11. of chromosome 4. is observed only in malignant GISTs.]

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[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease]

MOLNÁR Mária Judit, BORSOS Beáta, VÁRDI Visy Katalin, GROSZ Zoltán, SEBÕK Ágnes, DÉZSI Lívia, ALMÁSSY Zsuzsanna, KERÉNYI Levente, JOBBÁGY Zita, JÁVOR László, BIDLÓ Judit

[Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically, the disease has been classically classified in infantile and childhood/adult forms. Presently cc. close to 600 mutations distributed throughout the whole gene have been reported. The c.-32-13T>G splice mutation that is very common in patients of Caucasian origin affected by the childhood/adult form of the disease, with an allelic frequency close to 70%. Enzyme replacement treatment (ERT) is available for the patients with Pompe disease (Myozyme). In this paper, we are presenting the long term follow up of 13 adult onset cases treated more than 5 years. The longest follow up was 15 years. To evaluate the treatment efficacy, the 6 minutes walking test (6MWT) and the respiratory functions were monitored annually. The analysis revealed that at the beginning of ERT for 3-4 years the 6MWT had been generally increasing, then it declined, and after 10 years it was lower in 77% of the cases than it had been at the start of the treatment. In 23% of the cases the 6MWT increased during the follow up time. Only one of the patients become wheelchair dependent during the follow-up period. The respiratory function showed similar results especially in supine position. A high degree of variability was observed among patients in their responses to the treatment, which only partially associated with the antibody titer against the therapeutic protein. The efficacy of the ERT was associated with the type of the disease causing mutation, the baseline status of the disease, the lifestyle and the diet of the patient. The long-term follow up of the patients with innovative orphan drugs is necessary to really understand the value of the treatment and the need of the patients.]

Lege Artis Medicinae

[OVARIAN CHORIOCARCINOMA - A MOLECULAR PATHOLOGIC APPROACH TO DIFFERENTIAL DIAGNOSIS]

ERÉNYI Éva, SZIGETVÁRI Iván, ANDRIKOVICS Hajnalka, TORDAI Attila, URBÁN Márta, SIMON Károly

[INTRODUCTION - Gestational and non-gestational choriocarcinoma, the two types of choriocarcinoma with distinct aetiologies, cannot be differentiated by conventional histological or immunohistochemical methods. In certain cases the verification of the origin of the tumour by molecular biological techniques is essential for prognostic and therapeutic reasons. CASE REPORT - A 22-year-old woman presenting with acute abdominal pain was examined and operated on. During surgery a tumour was found in the right ovary. “Pure” choriocarcinoma was histologically diagnosed and gestational origin was supposed based on the distinct clinical features and histological picture. This was subsequently confirmed by molecular genetic testing. Parallel VNTR (variable number of tandem repeats) analysis by PCR of DNA from the tumour tissue and the patient's peripheral blood was performed. The pattern showed the presence of an allele presumed to be of paternal origin. (Blood sample from the father was not available.) One regimen of Vepesid, Cisplatina and Bleomycin was applied, and more than three years after the diagnosis the patient is free of disease. CONCLUSION - Multidisciplinary cooperation led to an accurate diagnosis and successful treatment. Non-radical surgery with the preservation of fertility followed by proper early chemotherapy provided excellent results.]

Lege Artis Medicinae

[Wegener’s granulomatosis: diagnostic questions]

CSISZÉR Eszter, SOLTÉSZ Ibolya, FÜZESI Katalin

[INTRODUCTION - Wegener’s granulomatosis is a disease of unknown origin classified as an immune vasculitis. The main pathologic feature is necrotising granulomatous small vessel vasculitis. Clinically the upper and/or lower airways are affected most often as well as the kidneys in the generalised form. The highly specific antineutrophil cytoplasmic antibodies have diagnostic significance beside the pathology and clinical symptoms. PATIENTS AND METHODS - We have studied the clinical and diagnostic characteristics of 15 cases diagnosed in our centre from the last 25 years. All patients had pulmonary manifestation. We analysed the organ involvement, clinical signs indicating the diagnosis, chest radiography, chances for biopsies of diagnostic significance and the difficulties of differential diagnostics. RESULTS - The diagnosis was made based on histological samples from the upper airways in three cases and from the lower airways in six cases (in four cases the bronchoscopic biopsies were diagnostic, in two patients thoracotomy was necessary). In six cases, clinical signs and typical organ manifestations were the basis of the diagnosis. CONCLUSION - This very rarely occurring disease which is difficult to recognise requires pulmonological examination due to the involvement of lungs. If this diagnosis comes to mind - based on findings of bilateral, multiplex, round pulmonal shadows with cavitation - the pulmonologist should search for other organ manifestations and involve respective specialists. Ideally, diagnosis is established by histopathology or by positive cytoplasmic antineutrophil cytoplasmic antibodies.]

Lege Artis Medicinae

[Illness representation of patiens with migraine and tension headache]

AMANDA Illés, NAGY Beáta Erika

[It’s been proven by many scientific observation that patients describe their diseases both in progression and adaptation in a different manner even though having a similar origin. The reason behind is the various cognitive background. The investigation of this cognitive function may help us understand patients personal reactions better. In 2007 I investigated the effect of three factors (type, understanding and duration of the disease) on illness representation in patients suffering from headache. The patients included were the following three groups: having migraine with aura, migraine without aura and patients with tension headache. I was looking for correlations and differences in disease representations. For this investigation I have used illness representation questionnaires translated and adapted to Hungarian population. The data were obtained in the waiting hall of two headache centres in Debrecen. Although there were no significant correlations in most of the cases, certain tendencies were observed. Understanding of disease representation could be very useful tool in psychological support, psychotherapy for the patients and it could improve their quality of life.]

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[The role of transcranial magnetic stimulation in clinical diagnosis: motor evoked potential (MEP)]

ARÁNYI Zsuzsanna, SIMÓ Magdolna

[Transcranial magnetic stimulation allows painless, non-invasive stimulation, neurophysiological evaluation of nervous structure covered by bone or difficult to access for other reasons. In the clinical setting the technique is mainly used for the investigation of the corticospinal tract (motor evoked potential: MEP). Based upon our experience with patients examined over the course of four years, we have attempted to highlight the clinical situations, where diagnostic help is provided by this technique. MEP in general has proved to be a sensitive and reliable examination. Its significance is apparent mainly in situations where clinical signs of corticospinal tract dysfunction are not evident, or they are masked by lower motoneurone involvement, and where neuroimaging techniques are not informative. The demonstration of subclinical corticospinal lesion is often essential to establish the diagnosis in multiple sclerosis and amyotrophic lateral sclerosis. The technique however received little attention so far with respect to its role in the diagnosis of various spinal cord disorders, and in the demonstration of intact corticospinal function in case of weakness, psychogenic in origin. We have endeavoured to provide further evidence in support of this, and thereby advocating a wider clinical application of the technique.]