Lege Artis Medicinae

[The molecular genetics of Duchenne and Becker muscular dystrophy]

FODOR Flóra1, PAPP Zoltán2

JANUARY 12, 1991

Lege Artis Medicinae - 1991;1(01)

[Duchenne muscular dystrophy, an X-linked inherited disease, is the most common among the severe muscular dystrophies, yet untreatable. lts secondary prevention, however, has become possible by the rapidly developing techniques of molecular biology. The authors describe the latest methods of DNA-diagnosis used, as well as the principles of setting up a diagnostic protocol.]


  1. Klinikai Orvos
  2. Egyetemi Tanár Semmelweis Orvostudományi Egyetem I. Szülészeti és Nőgyógyászati Klinika



Further articles in this publication

Lege Artis Medicinae

[Current issues in oral anticoagulation treatment]

SAS Géza

[Cardiovascular disease is the leading cause of death in civilised countries everywhere. The situation is particularly serious in our country: it is well known that we are one of the countries with the shortest life expectancy in Europe, precisely because of the devastating impact of circulatory diseases. While in the USA, thanks to improvements in living conditions and effective preventive measures, mortality from cardiovascular disease is falling dramatically and is being postponed to later and later years, here at home we can unfortunately expect the situation to deteriorate further in the years ahead.]

Lege Artis Medicinae

[The importance of oral symptoms in the early diagnosis of HIV infection (AIDS)]


[Oral lesions of AIDS might occur in every phase of H/V-infection, their importance in the early diagnosis and treatment is significant. The most frequent oral symptoms are: oral Candidiasis, acute necrotizing ulcerative gingivitis (ANUG) and periodontitis, herpetic infections, resistent to the usual therapy. ,,Hairy leukoplakia " of the tongue is characteristic hyperpigmentation of the oral mucosa, Kaposi's sarcoma are frequent symptoms, latter especially in more developed phases (ARC or AIDS) of the disease. Saliva-containing a factor inhibiting HIV-1 infection of human lymphocytes - has minimal importance in the transmission of the disease. Therefore, professional transmission of HIV-infection -, e. g. dental treatment of infected patients keeping the necessary cautions , - present minimal risk. The appropriate treatment of arai lesions of HIV-infected patients may help in maintaining their general health. ]

Lege Artis Medicinae

[The concept of the pathomechanism of ischaemic heart disease]

[The primary atherosclerotic plaque may remain unchanged in extent for a long time and, with the right size of stenosis, results in stable angina pectoris.]

Lege Artis Medicinae

[Family medicine, home care, family care]


[General Practice as an independent speciality of medicine has a very special territory, the family care. The family care is a general wish of the society. This special care is continuously made in every fifth-sixth family. ln the author's practice in the autumn of 1989 113families and 16 lonely persons, in 1990 120 families and 18 lonely persons were controlled regularly at home. The family care, the family medicine needs special knowledge and skill. Minimal addicional technical, personal and financial support is requested, burt due to the special care activity the level of medical work increases and it becomes more humanistic, needs of hospitalization decreases and the plus expenditure refunds. Far the better evaluation of family care a more systematic undergraduate and postgraduate teaching and a special research work would be needed.]

Lege Artis Medicinae

[The Hungarian ILCO Association]

[The domestic ILCO movement celebrates its 10th anniversary this year]

All articles in the issue

Related contents

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.]

Lege Artis Medicinae



[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



[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.]

Hypertension and nephrology

[Association between the genetic polymorphism of heat-shock protein 72 and pediatric kidney diseases]

BÁNKI Nóra Fanni, RUSAI Krisztina, KÁROLY Éva, SZEBENI Bea, VANNAY Ádám, SALLAY Péter, REUSZ György, TULASSAY Tivadar, SZABÓ J. Attila, FEKETE Andrea

[Recurring urinary tract infections (UTI) in childhood may result in chronic- and end-stage-renal-disease (ESRD), which leads to the initiation of dialysis and renal transplantation (NTx). Heat shock protein (HSP) 72 protects the kidney, whereas it refolds destroyed proteins and cells, and helps regenerating the renal tissue. The HSPA1B (1267)G allele is associated with lower HSP72 expression. This study assesses the role of HSPA1B A(1267)G polymorphism using PCR-RFLP in 103 children treated because of recurrent UTI, 26 children after NTx and 235 healthy controls. Clinical data were also evaluated. HSPA1B (1267)GG genotype and HSPA1B (1267)G allele occurred more frequently in the UTI (p=0.0001; CI: 1.378-2.68) and in the NTx (p=0.014; CI: 2.29-187.7) patient group than in the controls group, and were associated with a higher risk for scarring (p=0.012; CI: 0.33-1.00) and renal malformation (p=0.0072; CI: 1.623- 140.6). Our data indicate a relationship between the carrier status of HSPA1B (1267)G allele and the development of recurrent UTI and ESRD, raising further questions about the clinical and therapeutic relevance of these polymorphism.]