LAM KID

[Genetic possibilities in osteology]

ÁRVAI Kristóf1, KÓSA János Pál1

MARCH 30, 2013

LAM KID - 2013;3(01)

AFFILIATIONS

  1. Semmelweis Egyetem, I. Sz. Belgyógyászati Klinika, PentaCore Laboratórium

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Further articles in this publication

LAM KID

[Osseal and extraosseal effects of vitamin D]

GAÁL János

[The author reviews the literature on the osseal and extraosseal effects of vitamin D, discussing the role of vitamin D sufficiency in the maintenance of normal bone structure and bone mass, in fracture prevention and in the efficacy on antiporotic treatment. The effects of vitamin D on hemopoiesis, tumours, muscles, articular cartilage, lungs, cardiovascular system, central nervous system, skin and certain metabolic disorders are also discussed. The paper particularly emphasises and describes on a cellular level the immune-modulating effect of vitamin D and its influence on autoimmune disorders.]

LAM KID

[The role of bone turnover markers in the diagnosis and therapy of osteoporosis]

HONTVÁRI Lívia, KRÁNICZ Ágota

[Osteoporosis is a metabolic bone diseasecharacterised by decreased bone mass andimpaired bone turnover, which leads to anincreased risk of fractures and significantmorbidity and mortality. Its social and pub-lic health impact and the importance of itsearly and accurate diagnosis are indis-putable. The aim of timely and efficienttherapy is to improve bone quality as wellas to prevent the dreaded complications ofbone fractures. In clinical practice, labora-tory diagnosis of biochemical bone mark-ers are particularly important for therapeu-tic monitoring. In this article, reviewing lit-erature data, we discuss bone-specificmarkers from the clinician’s perspective,and highlight their importance in everydayclinical practice. ]

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[Effect of lactose intolerance on bone metabolism]

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[Impact of denosumab on the peripheral skeleton of postmenopausal women with osteoporosis: bone density, mass, and strength of the radius, and wrist fracture]

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[ParmigianoReggiano cheese and bone health]

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Valproic acid associated pleuropericardial effusion: case report

DEMIR Figen Ulku

Introduction - Valproic acid is an effective antiepileptic and mood stabilizer used in the treatment of many neurological and psychiatric disorders. Although there are frequently seen side effects, effusions between layers of pleural and pericardial membranes are rare to be seen. Case - Pleuropericardial effusion was detected in a 23 years old woman who was under valproic acid treatment because of epileptic seizure. After 1 year of valproic acid treatment, patient complained of dyspnea. As all the researches intended on etiology were usual, valproic acid has been thought to be responsible for the matter. Control examination after 1.5 months regarding the end of treatment revealed complete recovery of pleuropericardial effusion. Discussion - Pleural and pericardial effusions are rarely seen complications related to the use of valproic acid. It must also be kept in mind that valproic acid causes a potential for such side effects which can be blamed etiologically when the other possibilities for patients are excluded.

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. ]

Lege Artis Medicinae

[Education and psychological support of parents in cases of postnatally detected Down syndrome]

MÁTÉ Orsolya, KÍVÉS Zsuzsanna, OLÁH András, FULLÉR Noémi, PAKAI Annamária

[OBJECTIVE - Since the 60’s several publications dealt with the phenomenon how physicians inform parents of newborns about postnatal recognition of Down’s syndrome and the support they receive right after breaking the bad news. Howe - ver, the rest of these studies concentrated on surveying parental satisfaction, while relatively few international studies deal with the other side of the communicational situation, the opinion of the informer. Our study focused on the circumstances of parental information in Hungarian institutions of obstetrics in order to evaluate the possibilities for interventions. METHODS - The Down’s team operating at the University of Pécs Faculty of Health Sciences carried out a national survey in 2005 - an interview-based questionnaire filled by physicians of institutions of obstetrics - with the help of the National Register for Congenital Diseases of the National Centre for Epidemiology and Down’s Foun dation. RESULTS - The coverage of the survey reached 74%. Rest of the surveyed institutions did not have information protocol, however, 70% of them believes it would be necessary. Only 44% of the physicians received communication training and 81% of them believe they can manage communication, 33% have felt that the mother of a newborn with Down’s syndrome would expect special help that the institutions are unable to provide. CONCLUSION - There are serious problems with the circumstances of parental informing in Hungarian institutions of obstetrics. This situation would obviously require intervention. An aimed communicational training based on international experience and exploiting the openness of physicians, as well as the establishment of information protocol could be elements of such intervention.]

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

[The possibilities of pharmacological treatment of obesity]

PADOS Gyula, SIMONYI Gábor, BEDROS J. Róbert

[There have been attempts to treat obesity with medicines for nearly 100 years, since the discovery of ephedrine. For decades amphetamine derivates and agents stimulating or inhibiting the release of noradrenaline and dopamine have been applied. However, most of theses drugs had to be gradually withdrawn, due to their adverse effects on the cardiovascular and central nervous system or their sympaticotonic effect. Dexfenfluramine (Isolipan), which was introduced in the 90s, did not have such side effects, but it turned out to potentially cause valvular heart disease. Finally, sibutramin (Reductil) was introduced, which again had to be withdrawn in 2010 due to its hypertensive and cardiovascular side effects. After all, we were left without any appetite-suppressant drugs. Orlistat therapy, (Xenical 120 mg, alli 60 mg - OTC), which inhibits the absorption of fat, can eliminate only 30% of the consumed food’s fat content, at the price of gastrointestinal side effects. The latest result of research carried out wordwide is that in 2012 the FDA approved commercial distribution of the selective 5HT2/c serotonin agonist lorcaserin (Belviq), which enhances satiety, in the USA. Unfortunately, in 2013 the EMEA temporarily postponed the lauch of this drug, until certain adverse effects are excluded. For diabetic patients, the GLP-1 agonist exenatid and the GLP-analog liraglutid, which can also reduce body weight, are available in the form of injections.]