Lege Artis Medicinae

[Focus on GPs’ activities as official experts]

KRAMER Imre

APRIL 01, 2009

Lege Artis Medicinae - 2009;19(03)

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[A Discovery: a Snapshot or a Final Chord?]

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[Waste in the American Healthcare System]

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[The All-seeing Eye]

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Lege Artis Medicinae

[Anaemia of chronic disease: causes and therapeutic options]

EGYED Miklós

[Anemia observed in patients with infectious, inflammatory, or neoplastic diseases and persisting for more than one month is called anemia of chronic disease. The term anemia of chronic disease is far from perfect, the terms of anemia of inflammation, cytokine-mediated anemia, and anemia of defective iron reuse are also used. Anemia of chronic disease is more common than any other anemia syndrome - apart from anemia caused by iron deficiency secondary to blood loss. Erythrocytes usually are normocytic, but hypochromia and microcytosis may also be observed. In almost every case, this type of anemia is hypo-regenerative. Characteristic laboratory findings include hypoferremia, hyperferritinemia, and hypotransferrinemia. Cause of this anemia is complex; pathogenesis of this anemia includes moderate shortening of erythrocyte survival, blunted response to erythropoietin, reduced medullar erythropoiesis, and limited medullar iron availability. In addition to treating the underlying pathology, treatment opportunities are recombinant human erythropoietin, transfusions, and intravenous iron.]

Lege Artis Medicinae

[Successful adalimumab treatment of Crohn,s disease complicated by anal stenosis]

MIHELLER Pál

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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

Restless leg syndrome frequency in health workers

ÖCAL Ruhsen, ATGÜDEN Gizem, AYCAN Cagri, BALABAN Zeynep, SENAR Seran, YAVUZ Sena

Introduction - Restless Leg Syndrome (RLS) is a disease, primarily composed of sensational symptoms, caused by the urge to move lower extremities especially at night, and characterized by undesired feelings of the legs. Decreasing of the dopaminergic effect at night is thought to be responsible from these symptoms. RLS patients suffer from low quality of sleep affecting their daily life activities even causing socio-economic loss. Although RLS is a common and treatable disease, it can not be diagnosed easily due to the variability of symptoms. Aim - The purpose of this study is to determine the frequency of RLS among health workers and to define the disease causing factors. Method - A questionnaire was applied to 174 randomly selected health workers at Baskent University Medical Faculty (KA17/285). The demographic information, history of illnesses or usage of drugs, socioeconomic status, working hours and daytime sleepiness were questioned. Included in the questionnaire were diagnostic criteria for RLS, frequency assessment scale, and survey of sleep quality. We used “the diagnostic criteria of international RLS working group” for the diagnosis, and “Pittsburgh sleep quality index survey” to determine the quality of sleep. Reliability and validity studies were performed on both tests. Results - A significant relationship between socio-economic status and RLS was found (p<0.05) as an increase of RLS frequency in parallel with decreased socio-economic status. RLS was found to be common among health workers. We suggest that health workers should be checked regularly, and they should be informed about the disease in order to raise an awareness and hence increase their quality of life.

Clinical Neuroscience

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

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[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. ]

Clinical Neuroscience

[Decisional collisions between evidence and experience based medicine in care of people with epilepsy]

RAJNA Péter

[Background – Based on the literature and his long-term clinical practice the author stresses the main collisions of evidence and experience based medicine in the care of people with epilepsy. Purpose – To see, what are the professional decisions of high responsibility in the epilepsy-care, in whose the relevant clinical research is still lacking or does not give a satisfactory basis. Methods – Following the structure of the Hungarian Guideline the author points the critical situations and decisions. He explains also the causes of the dilemmas: the lack or uncertainty of evidences or the difficulty of scientific investigation of the situation. Results – There are some priorities of experience based medicine in the following areas: definition of epilepsy, classification of seizures, etiology – including genetic background –, role of precipitating and provoking factors. These are able to influence the complex diagnosis. In the pharmacotherapy the choice of the first drug and the optimal algorithm as well as the tasks during the care are also depends on personal experiences sometimes contradictory to the official recommendations. Same can occur in the choice of the non-pharmacological treatments and rehabilitation. Discussion and conclusion – Personal professional experiences (and interests of patients) must be obligatory accessories of evidence based attitude, but for achieving the optimal results, in some situations they replace the official recommendations. Therefore it is very important that the problematic patients do meet experts having necessary experiences and also professional responsibility to help in these decisions. ]