Lege Artis Medicinae

[Clinical importance of pharmacogenetic investigation]

VAS Ádám1, RÓNA Kálmán1, GACHÁLYI Béla 1, SZABÓ Ildikó2

APRIL 29, 1992

Lege Artis Medicinae - 1992;2(04)

[This is a brief review on the most important monogenically determined metabolic polymorphisms, their biochemical background and clinical significance. Relevant data from literature are also featured. The authors review data on possible connections between metabolic polymorphism and the risk of certain diseases.]


  1. Orvostovábbképző Egyetem I. Belklinika Klinikai Farmakológiai Csoport
  2. Apáthy István Gyermekkórház



Further articles in this publication

Lege Artis Medicinae

[Malnutrition syndrome in childhood part I.]

BAKSAI László, PHILIP W. H. Eskes

[Malnutrition is a chrocic nutritional disorder resulting from insufficient intake of caloric energy and/or some the fundamental nutrients. Since it is the most common public health problem in the world it has a great impact on pediatric morbidity and mortality. The etiology is extremely complex. When one considers the less severe symptoms and signs caused by vitamin-, mineral-, and trace element deficiencies, it is apparent that not only children living in underprivileged countries are affected. In the course of making the diagnosis an assessment of the nutritional status should also be made, especially considering the above-mentioned marginal nutritional deficiencies. The most common manifestation of nutritional disorders is anemia, which is mostly caused by lack of iron, vitamin B12, folic acid and can be complicated by infections. Nutritional requirements can be affected by several drugs. That is why this medication-nutrition interaction has to be kept in mind during treatment. The interaction of malnutrition and infection is very important, primarily for three reasons: mechanisms by which infection complicates the metabolic and nutritional status of the host; importance of suboptimal nutritional status on susceptibility and severity of intercurrent infections; clinical and therapeutic implication of these interactions. ]

Lege Artis Medicinae

[The bleeding time]

BODA Zoltán

[The bleeding time is considered to be the best screening test for the detection of disorders of primary haemostasis. Despite a large number of bleeding time tests, the exact pathophysiological background of the prolonged bleeding time is unknown. The significance of the cellular (platelet) von Willebrand protein is emphasized. A sensitive method (Ivy) and standardized devices (Simplate) are suggested. Examination of the bleeding time in cases of von Willebrand disease and congenital or acquired thrombocytopathy is essential. Specific recommendations regarding the rational use of the bleeding time (diagnostic algorythm) are presented. ]

Lege Artis Medicinae



[Includes the following letters : Little Hungarian point system; ...and the injured?; Abuse of psychosomatics the organic dimension of psychiatry; Psychogenic horsekick; ]

Lege Artis Medicinae

[P300 wave evoked by visual and acustic stimuli in parkinsonian patients with or without dementia]


[Authors analysed the relationship between cognitive function disturbance observed in patients with Parkinson's disease and clinical features of the disease. Relationship between the latency prolongation of the P 300 wave and the duration of substitution therapy, clinical form and severity of the disease (the Hoehn-Yahr stage) was examined. 75 randomly selected young patients with Parkinson's disease were divided in to two groups: one with and the other without dementia as determined by the Wechsler. Hunt and Mini Mental State tests. The latency of the P 300 wave using visual and acoustic stimuli was determinated. Significant prolongation of the latency of P 300 wave evoked both by visual and acoustic target stimuli was found in parkinsonian patients with dementia. Patients with dementia have longer duration of disease and substitution therapy. The akinetic-rigid form of the disease was more frequent in this group as well. A significant part of younger patients are chacarterised not only with motor but with cognitive function disturbance, too. Determination of the latency of P 300 wave helps to select these patients and to choose the adequat therapy. ]

Lege Artis Medicinae

[Monitoring the immunophenotype of mononuclear cells in the cerebrospinal fluid acute lymphoid leukemia patients]


[Cerebrospinal fluid and blood samples were drawn at scheduled intervals from recently diagnosed or recurrent acut lymphoid leukaemia patients undergoing combined cytostatic therapy. The immunophenotype of mononuclear cells, separated from the samples, was determined and compared. It was found that the number of non-pathological mononuclear cells increased from time to time during the intense treatment period of ALL patients with high malignancy or recur rence and that their phenotype was similar to the actual surface markers of peripheral lymphocytes. According to findings in the literature based on monitoring other parameters, this phenomenon may be due to the increased permeability of the blood brain barrier, injured by intense chemotherapy and radiotherapy, or to reactive cell proliferation. ]

All articles in the issue

Related contents

Lege Artis Medicinae

[The aims and latest results of clinical toxicological analysis]

RÓNA Kálmán

[Almost 80 percent of poison-related deaths are caused by drugs. The overwhelming majority of today's clinical toxicological work is comprised of cases of toxic level drug overdose, drug mixups, adverse effects during therapeutic drug administration, as well as intoxication from drug abuse. A prerequisite of adequate therapy of intoxication is the qualitative and quantitative determination of the compounds causing it. The two elements of systematic toxicological analysis are the screening test and the confirmatory test. The review touches on the toxicologic use of the hyphenated chromatographic-spectroscopic instruments and on the alternative biological matrices. It is known that the effects and toxic side-effects of many drugs show substantial interindividual differences even in the same doses. One of the possible causes of this phenomenon is a genetically determined polymorphic drug metabolism. Some pharmacogenetically determined anomalies in drug administration, particularly enzyme inhibition and induction, are of clinical toxicological importance.]

Clinical Neuroscience

[Relationship between the efficacy of atypical antipsychotics and polymorphism of dopamine D3 receptor in schizophrenia]

SZEKERES György, JUHÁSZ Anna, KÉRI Szabolcs, RIMANÓCZY Ágnes, SZENDI István, SZABÓ Zoltán, JANKA Zoltán

[Object - Numerous relevant variants of dopamine receptors have been identified in schizophrenia. The Ser9Gly gene polymorphism of dopamine D3 receptor is known as a susceptibility factor for the disease. In addition, it has a role in the modification of therapeutic effect of antipsychotics. In this naturalistic study the authors investigated the relationship between this polymorphism and the therapeutic response to atypical antipsychotics. Method - 75 patients with schizophrenia according to DSM-IV and 45 healthy controlls were recruited. The patients were divided to responder and nonresponder subgroups, cut-off: >20 point improvement in Global Assessment of Functioning. By polymerase chain reaction the genotype of dopamine D3 receptor of every participant was determined. Results - The Ser9Ser genotype of dopamine D3 receptor was more frequent in the nonresponder subgroup (64%, p=0.0018). The Ser9 allele was overrepresented among nonresponder patients (82%, p=0.0172). Conclusion - Based on our results, the worse therapeutic response to atypical antipsychotics is associated with Ser9 variant of dopamine D3 receptor.]

Lege Artis Medicinae



[In this review we summarise the current results of the genomic investigation of allergic diseases. From the genetic point of view allergy is multifactorial, which means that the susceptibility to the disease is determined by the effect of one or more genes or the interactions between multiple genes and involves important nongenetic factors such as the environment for their expression. Among allergic diseases the genomic background of asthma was studied most thoroughly. Until now, using hundreds of DNA markers, located across all of the human chromosomes, 16 genome-wide screens for susceptibility genes for asthma or asthma related intermediate phenotypes in 12 different populations have been published and 20 chromosomal regions have been highlighted for further analysis. In genetic association studies more than 500 genes were identified as candidate genes for asthma. In this review, we selected those results which were consistently reported by several independent studies or appeared particularly important or interesting. According to the results of the human genome programs and association studies we discuss the possible roles of candidate genes found in these loci in the pathomechanism of allergy and atopy.]

Hungarian Immunology

[Molecular biology of 70 kD heat shock protein and its role in certain immunological processes]


[Heat-shock proteins, or stress proteins play important role in cellular survival owning to their protective function. Their highly conserved structure renders them ideal messengers of cellular stress response. One of the best known representative of these proteins is the 70 kDa heat-shock protein (Hsp70), there is increasing amount of data about the intraand extracellular functions of this stress protein. In the present review the regulation of hsp70 gene expression, and hsp70 polimorfisms, the possible impact of polymorphisms to certain diseases, and the multilevel relationship between Hsp70 and the immun response are discussed. The authors review the role of Hsp70 in anti-tumor immunity, and the presence of anti-Hsp70 antibodies and their possible association with certain diseases. Here they present some of their recent observations: they detected the presence of anti-Hsp70 antibodies in all adult sera and found no correlation between these antibody levels and the presence of severe coronary heart disease. Recently we also showed, that human Hsp70 can activate the classical pathway of complement system in vitro, by direct binding of the first complement C1q.]

Lege Artis Medicinae



[The Reiter-syndrome is the complex of sterile arthritis, urethritis and conjunctivitis and involvement of other organs (skin, mucosal membranes, cardiac conducting system) following bacterial enteric or urogenital infec tion. Systemic signs can also occur with polyarthritis. This syndrome belongs to the reactive arthritis group. In each year there are 30 40 new cases among 100 000 citizens. The disease can occur at any age, but most of the patients are 20-40 years old. It is the patient's genetic background and the type of invading microbes that play a leading role in the pathomechanism of the disease. The exact pathomechanism is yet unknown, therefore our treatment is symptomatic. It is advised to immobilize the involved joint and aspirate the excess fluid and to take non-steroidal antiinflammatory drugs. The patient's medical history is most important to diagnose the disease, because laboratory tests may show signs of inflammation, the serology can only prove antecedent infection, viable organism can not be cultured from the involved organs and the imaging procedures and histology shows non-specific inflammation only. The importance of diagnostic procedures is to exclude the presence of other diseases. Other causes of monarticular inflammation (infection, crystal induced arthritis, sarcoid arthritis) and rheumatic fever should be excluded. The disease lasts for 3-6 months. 2 to 18% of the patients develop chronic arthritis and 12 to 26% of the patients develop ankylosing spondylitis. ]