Lege Artis Medicinae

[Outrageous Nudity, or the Burden of Being Recognisable ]

GEREVICH József

DECEMBER 18, 2016

Lege Artis Medicinae - 2016;26(11-12)

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[End-of-Life Decision Situations – Physician-Assisted Suicide in the Context of Hospice: Oregon and Washington (USA) ]

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[The role of the family physician in the preparation for liver transplantation in Wilson’s disease]

FARKAS Anett, KALABAY László, MÁTHÉ Zoltán, MÁRKUS Bernadett, SZALAY Ferenc, VÖRÖS Krisztián, TORZSA Péter

[Wilson’s disease is an autosomal recessive disease with toxic copper accumulation caused by the mutation of the ATP7B gene in chromosome 13. The estimated prevalence of the disease is 2-3 / 100000. Early diagnosis is important because the treatment may stop the progression and could result regression or it can prevent the clinical manifestation of the disease. In our case study we describe how difficult could be to diagnose the disease, the role of the family physician in the preparation for liver transplantation and in the follow-up care. This case is an example demonstrating that Wilson's disease is often diagnosed only years after the appearance of the first symptom. We review the most important literature data on Wilson’s disease. ]

Lege Artis Medicinae

[The cardiovascular risk of nonsteroidal antiinflammatory drugs]

AMBRUS Csaba, KISS István

[Non-steroidal anti-inflammatory drugs (NSAIDs) are among the most common pain relief and anti-inflammatory medications all over the World, and many formulations are also available over-the-counter. Beyond the well-known gastrointestinal risks, emerging evidence supports increased incidence of cardiovascular events associated with the use of NSAIDs. This cardiovascular risk seems to be independent of the cyclooxygenase selectivity of these drugs. Distinct side effect profiles of various NSAIDs were summarized in a former issue of the Journal: LAM 2014;24(7): 327. In this paper, we aimed to summarize some of the yet unpublished results of a major research project of the European Medicines Agency (EMA), that was conducted in order to establish the relative risk of CV outcomes (myocardial infarction, ischaemic stroke and hospitalization for heart failure) associated with the use of various NSAIDs. In this epidemiological study, seven European healthcare databases on a source population of 35 million subjects were linked and analyzed. Most of the results are currently only available on the project homepage; however, analyses of heart failure data have already been published in a recent issue of The BMJ. ]

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[In recent decades it has become increasingly important to involve patients in their diagnostic and treatment process to improve treatment outcomes and optimize compliance. By their involvement, patients can become active participants in therapeutic developments and their observations can be utilized in determining the unmet needs and priorities in clinical research. This is especially true in rare diseases such as Pompe disease. Pompe disease is a genetically determined lysosomal storage disease featuring severe limb-girdle and axial muscle weakness accompanied with respiratory insufficiency, in which enzyme replacement therapy (ERT) now has been available for 15 years. In our present study, patient reported outcome measures (PROMs) for individuals affected with Pompe disease were developed which included questionnaires assessing general quality of life (EuroQoL, EQ-5D, SF36), daily activities and motor performance (Fatigue Severity Score, R-PAct-Scale, Rotterdam and Bartel disability scale). Data were collected for three subsequent years. The PROM questionnaires were a good complement to the physician-recorded condition assessment, and on certain aspects only PROMs provided information (e.g. fatigue in excess of patients’ objective muscle weakness; deteriorating social activities despite stagnant physical abilities; significant individual differences in certain domains). The psychological effects of disease burden were also reflected in PROMs. In addition to medical examination and certain endpoints monitored by physicians, patient perspectives need to be taken into account when assessing the effectiveness of new, innovative treatments. With involvement of patients, information can be obtained that might remain uncovered during regular medical visits, although it is essential in determining the directions and priorities of clinical research. For all orphan medicines we emphasize to include patients in a compulsory manner to obtain general and disease-specific multidimensional outcome measures and use them as a quality indicator to monitor treatment effectiveness.]

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[Trace elements are found in the living organism in small (trace) amounts and are mainly essential for living functions. Essential trace elements are in humans the chromium (Cr), cobalt (Co), copper (Cu), fluorine (F), iodine (I), iron (Fe), manganese (Mn), molybdenum (Mo), selenium (Se), zinc (Zn), and questionably the boron (B) and vanadium (V). According to the biopsychosocial concept, mental functions have biological underpinnings, therefore the impairment of certain neurochemical processes due to shortage of trace elements may have mental consequences. Scientific investigations indicate the putative role of trace element deficiency in psychiatric disorders such in depression (Zn, Cr, Se, Fe, Co, I), premenstrual dysphoria (Cr), schizophrenia (Zn, Se), cognitive deterioration/de­mentia (B, Zn, Fe, Mn, Co, V), mental retardation (I, Mo, Cu), binge-eating (Cr), autism (Zn, Mn, Cu, Co) and attention deficit hyperactivity disorder (Fe). At the same time, the excess quantity (chronic exposure, genetic error) of certain trace elements (Cu, Mn, Co, Cr, Fe, V) can also lead to mental disturbances (depression, anxiety, psychosis, cognitive dysfunction, insomnia). Lithium (Li), being efficacious in the treatment of bipolar mood disorder, is not declared officially as a trace element. Due to nutrition (drinking water, food) the serum Li level is about a thousand times less than that used in therapy. However, Li level in the red cells is lower as the membrane sodium-Li countertransport results in a Li efflux. Nevertheless, the possibility that Li is a trace element has emerged as studies indicate its potential efficacy in such a low concentration, since certain geographic regions show an inverse correlation between the Li level of drinking water and the suicide rate in that area. ]