Lege Artis Medicinae

[In the focus: Allergy]

NÉKÁM Kristóf

APRIL 20, 2005

Lege Artis Medicinae - 2005;15(04)

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Lege Artis Medicinae

[Methotrexate inhibits the glyoxalase system in vivo in children with acute lymphoid leukaemia]

BARTYIK Katalin, TÚRI Sándor, OROSZ Ferenc, KARG Eszter

Lege Artis Medicinae

[SCIENTIFIC DIGEST]

Lege Artis Medicinae

[CLINICAL EXAMINATION OF ENZYME CATALASE AND ITS MUTATIONS IN HUNGARY]

GÓTH László

[Hydrogen peroxide is formed during physiological and pathological processes in the human body. Hydrogen peroxide in high concentration and its more reactive compound (hydroxyl radical) can damage cells. Recent findings show that hydrogen peroxide in low concentration is required for many physiological pathways of cell signaling such as diabetes, platelet activation, inflammation, immune response. In human tissues the steady state concentration of hydrogen peroxide changes between 0.1 nmol/l-100 micromol/l. The main regulator of hydrogen peroxide metabolism is the enzyme catalase. This enzyme has a fast and high activity on high hydrogen peroxide concentrations and it shows a weak effect on its physiologic concentration. Acatalasemia, the inherited deficiency of enzyme catalase seems to be rather a syndrome than a simple enzyme deficiency as it was thought earlier. It is associated with changes in lipid, carbohydrate and erythrocyte metabolisms. Contrary to the the worldwide (11 countries) distribution of acatalasemia only two syndrome causing catalase mutations have been reported from Japan. Recently, four novel catalase mutations detected in one acatalasemic and 12 hypocatalasemic Hungarian families which mutations are responsible for the decreased catalase activity.]

Lege Artis Medicinae

[COMMODORE]

MATOS Lajos

Lege Artis Medicinae

[NOVEL RESULTS ON SYSTEMIC LUPUS ERYTHEMATOSUS]

KISS Emese, GERGELY Péter, SZEGEDI Gyula

[Systemic lupus erythematosus is an autoimmune disorder. It stands at the focus of medical interest: basic scientists, clinicians and innovative biotechnologists all pay attention to lupus. Authors of this article present the novel scientific results on the etiopathogenesis, clinical and laboratory characteristics of SLE. Furthermore, authors discuss diagnostic problems and the possible therapeutic modalities. One of the most important results is the characterisation and mapping of the susceptibility genes as well as the analysis of their functional features. More and more is known about the relationship between natural and adaptive immunity, about the cooperation of T and B cells. The abnormalities of intracellular biochemical processes and signal transduction pathways have been cleared. The importance of cytokine network and infective agents in the pathogenesis of SLE has largely been investigated recently. With regards to the outcome of the disease, there is growing attention paid on chronic organ damages, such as end-stage renal disease, osteoporosis and atherosclerosis - in connection with the increased life expectancy. Evidence accumulates on the importance of immune-inflammatory processes in the initiation and perpetuation of osteoporosis and atherosclerosis. There is an urgent need for validated biomarkers which can predict the susceptibility, prognosis, clinical manifestations, activity and severity of SLE. To follow and measure the effectiveness of treatment is also required. Although the principals of lupus management have not changed, novel immune modulators, biological therapy and non-medical treatments (e.g. stem-cell transplantation) have become available. Further research and clinical observations may help to find the real place of such therapeutics.]

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Clinical Neuroscience

Neuroscience highlights: Main cell types underlying memory and spatial navigation

KRABOTH Zoltán, KÁLMÁN Bernadette

Interest in the hippocampal formation and its role in navigation and memory arose in the second part of the 20th century, at least in part due to the curious case of Henry G. Molaison, who underwent brain surgery for intractable epilepsy. The temporal association observed between the removal of his entorhinal cortex along with a significant part of hippocampus and the developing severe memory deficit inspired scientists to focus on these regions. The subsequent discovery of the so-called place cells in the hippocampus launched the description of many other functional cell types and neuronal networks throughout the Papez-circuit that has a key role in memory processes and spatial information coding (speed, head direction, border, grid, object-vector etc). Each of these cell types has its own unique characteristics, and together they form the so-called “Brain GPS”. The aim of this short survey is to highlight for practicing neurologists the types of cells and neuronal networks that represent the anatomical substrates and physiological correlates of pathological entities affecting the limbic system, especially in the temporal lobe. For that purpose, we survey early discoveries along with the most relevant neuroscience observations from the recent literature. By this brief survey, we highlight main cell types in the hippocampal formation, and describe their roles in spatial navigation and memory processes. In recent decades, an array of new and functionally unique neuron types has been recognized in the hippocampal formation, but likely more remain to be discovered. For a better understanding of the heterogeneous presentations of neurological disorders affecting this anatomical region, insights into the constantly evolving neuroscience behind may be helpful. The public health consequences of diseases that affect memory and spatial navigation are high, and grow as the population ages, prompting scientist to focus on further exploring this brain region.

Clinical Neuroscience

The methylation status of NKCC1 and KCC2 in the patients with refractory temporal lobe epilepsy

UNAL Yasemin, KARA Murat, GENC Fatma, OZTURK Aslan Dilek, GÖMCELI Bicer Yasemin, KAYNAR Taner, TOSUN Kursad, KUTLU Gülnihal

Purpose - Methylation is a key epigenetic modification of DNA and regarding its impact on epilepsy, it is argued that “DNA methylation may play an important role in seizure susceptibility and maintenance of the disorder”. DNA methylation status of KCC2 (SCL12A5) and NKCC1 (SCL12A2) associated with refractory temporal lobe epilepsy was investigated in our study. Materials and methods - Thirty-eight patients with temporal lobe epilepsy (TLE) who were diagnosed by video EEG monitoring and 32 healthy control subjects were included in the study. Twenty-three patients in TLE group were men and the remaining 15 were women. Among them, 27 had unilateral temporal focus (9 with right; 18 with left) and 11 patients had bilateral TLE. We analyzed promoter region methylation status of the KCC2 (SCL12A5) and NKCC1 (SCL12A2) genes in the case and control groups. Gene regions of interest were amplified through PCR and sequencing was accomplished with pyro-sequencing. Results - We found a significant relationship between TLE and methylation on the NKCC1. However, there was no association between TLE and methylation on the KCC2 gene. Also, we found no association between right or left and unilateral or bilateral foci of TLE. There was no relationship between TLE and methylation on the NKCC1and KCC2 genes in terms of mesial temporal sclerosis in cranial MRI, head trauma or febrile convulsions. Conclusion - The methylation of NKCC1 can be a mecha­nism of refractory temporal lobe epilepsy. There are limited findings about DNA methylation in TLE. Therefore, further studies with large sample sizes are necessary.

Clinical Neuroscience

[Family planning in multiple sclerosis: conception, pregnancy, breastfeeding]

RÓZSA Csilla

[Family planning is an exceptionally important question in multiple sclerosis, as women of childbearing age are the ones most often affected. Although it is proven that pregnancy does not worsen the long-term prognosis of relapsing-remitting multiple sclerosis, many patients are still doubtful about having children. This question is further complicated by the fact that patients – and often even doctors – are not sufficiently informed about how the ever-increasing number of available disease-modifying treatments affect pregnancies. Breastfeeding is an even less clear topic. Patients usually look to their neurologists first for answers concerning these matters. It falls to the neurologist to rationally evaluate the risks and benefits of contraception, pregnancy, assisted reproduction, childbirth, breastfeeding and disease modifying treatments, to inform patients about these, and then together come to a decision about the best possible therapeutic approach, taking the patients’ individual family plans into consideration. Here we present a review of relevant literature adhering to international guidelines on the topics of conception, pregnancy and breastfeeding, with a special focus on the applicability of approved disease modifying treatments during pregnancy and breastfeeding. The goal of this article is to provide clinicians involved in the care of MS patients with up-to-date information that they can utilize in their day-to-day clinical practice. ]

Lege Artis Medicinae

[In the focus: COPD]

HERJAVECZ Irén

Clinical Oncology

[Burnout syndrome - prevention and treatment]

SZY Ágnes

[The defi nition of burnout syndrome was established due to the recognition of changes that practising physicians experienced in their affective state and behaviour as well as the observation of physical symptoms that put their health at risk. Burnout syndrome can be characterised by a triadic set of factors: emotional exhaustion, depersonalisation, and decline of professional achievement. The present article aims to describe burnout syndrome with regard to the fact that similarities and differences between burnout syndrome and affective disorders such as depression must be highlighted. The focus of this article is that health care professionals burnout is multicausal and it is insuffi cient to put only the individual in the spotlight although it is imperative that we attend to the individual fi rst. It is essential to highlight the fact that without changes in the institutional work culture and requirements the prevalence of burnout syndrome can hardly decrease. It is also the aim of this work to provide the practising health care professional with information that they can easily transform into immediate help.]