Lege Artis Medicinae

[Outrageous Nudity, or the Burden of Being Recognisable ]


DECEMBER 18, 2016

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



Further articles in this publication

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[The Old King in His Exile – Arno Geiger’s Novel on Alzheimer’s ]


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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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[Handicap in Movie ]


Lege Artis Medicinae

[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 In this paper, we aimed to summarize some of the yet unpublished results of a major research project of the European Medicines Agency (EMA), that was conducted in order to establish the relative risk of CV outcomes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. ]

All articles in the issue

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[The importance of patient reported outcome measures in Pompe disease]

MOLNÁR Mária Judit, MOLNÁR Viktor, LÁSZLÓ Izabella, SZEGEDI Márta, VÁRHEGYI Vera, GROSZ Zoltán

[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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[Covid-19 associated neurological disorders]

SZÔTS Mónika, PÉTERFI Anna, GERÖLY Júlia, NAGY Ferenc

[The clinical signs of SARS-CoV-2 infection has become more recognisable in recent times. In addition to common symptoms such as fever, cough, dyspnea, pneumonia and ageusia, less common complications can be identified, including many neurological manifestations. In this paper, we discuss three Covid-19 associated neurological disorders (Case 1: Covid-19 encephalitis, Case 2: Covid-19 organic headache, Case 3: SARS-CoV-2-infection and ischaemic stroke). We emphasize in our multiple case study that during the present pandemic, it is especially important for neurologists to be aware of the nervous system complications of the virus infection, thus saving unnecessary examinations and reducing the frequency of patients’ contact with health care personnel. ]

Clinical Neuroscience

[Tracing trace elements in mental functions]

JANKA Zoltán

[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. ]

Clinical Neuroscience

[Disease burden of Duchenne muscular dystrophy patients and their caregivers]


[Background and purpose - Data on the disease burden of Duchenne Muscular Dystrophy are scarce in Hungary. The aim of this study was to assess patients’ and their caregivers’ health related quality of life and healthcare utilisations. Methods - A cross sectional survey was performed as part of the European BURQOL-RD project. The EQ-5D-5L and Barthel Index questionnaires were applied, health care utilisations and patients’ informal carers were surveyed. Results - One symptomatic female carer, 50 children (boys 94%) and six adult patients (five males) participated in the study, the latter two subgroups were included in the analysis. The average age was 9.7 (SD=4.6) and 24.3 (SD=9.8) years, respectively. Median age at time of diagnosis was three years. The average EQ-5D score among children and adults was 0.198 (SD=0.417) and 0.244 (SD=0.322), respectively, the Barthel Index was 57.6 (SD=29.9) and 53.0 (SD=36.5). Score of satisfaction with healthcare (10-point Likert-scale) was mean 5.3 (SD=2.1) and 5.3 (SD=2.9). 15 children were hospitalised in the past 12 months for mean 12.9 (SD=24.5) days. Two patients received help from professional carer. 25 children (mean age 11.1, SD=4.4 years) were helped/supervisied by principal informal carer (parent) for mean 90.1 (SD=44.4) hours/week and further family members helped in 21 cases. Correlation between EQ-5D and Barthel Index was strong and significant (0.731; p<0.01) as well as with informal care time (-0.770; p<0.01), but correlation with satisfaction with health care was not significant (EQ-5D: 0.241; Barthel Index: 0.219; informal care: -0.142). Conclusion - Duchenne muscular dystrophy leads to a significant deterioration in the quality of life of patients. Parents play outstanding role in the care of affected children. This study is the first in the Central and Eastern European region that provides quality of life data in this rare disease for further health economic studies.]

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[Advanced Parkinson’s disease characteristics in clinical practice: Results from the OBSERVE-PD study and sub-analysis of the Hungarian data]

TAKÁTS Annamária, ASCHERMANN Zsuzsanna, VÉCSEI László, KLIVÉNYI Péter, DÉZSI Lívia, ZÁDORI Dénes, VALIKOVICS Attila, VARANNAI Lajos, ONUK Koray, KINCZEL Beatrix, KOVÁCS Norbert

[The majority of patients with advanced Parkinson’s disease are treated at specialized movement disorder centers. Currently, there is no clear consensus on how to define the stages of Parkinson’s disease; the proportion of Parkinson’s patients with advanced Parkinson’s disease, the referral process, and the clinical features used to characterize advanced Parkinson’s disease are not well delineated. The primary objective of this observational study was to evaluate the proportion of Parkinson’s patients identified as advanced patients according to physician’s judgment in all participating movement disorder centers across the study. Here we evaluate the Hungarian subset of the participating patients. The study was conducted in a cross-sectional, non-interventional, multi-country, multi-center format in 18 countries. Data were collected during a single patient visit. Current Parkinson’s disease status was assessed with Unified Parkinson’s Disease Rating Scale (UPDRS) parts II, III, IV, and V (modified Hoehn and Yahr staging). Non-motor symptoms were assessed using the PD Non-motor Symptoms Scale (NMSS); quality of life was assessed with the PD 8-item Quality-of-Life Questionnaire (PDQ-8). Parkinson’s disease was classified as advanced versus non-advanced based on physician assessment and on questions developed by the Delphi method. Overall, 2627 patients with Parkinson’s disease from 126 sites were documented. In Hungary, 100 patients with Parkinson’s disease were documented in four movement disorder centers, and, according to the physician assessment, 50% of these patients had advanced Parkinson’s disease. Their mean scores showed significantly higher impairment in those with, versus without advanced Parkinson’s disease: UPDRS II (14.1 vs. 9.2), UPDRS IV Q32 (1.1 vs. 0.0) and Q39 (1.1 vs. 0.5), UPDRS V (2.8 vs. 2.0) and PDQ-8 (29.1 vs. 18.9). Physicians in Hungarian movement disorder centers assessed that half of the Parkinson’s patients had advanced disease, with worse motor and non-motor symptom severity and worse QoL than those without advanced Parkinson’s disease. Despite being classified as eligible for invasive/device-aided treatment, that treatment had not been initiated in 25% of these patients.]