Lege Artis Medicinae

[Evaluation of mutations in cystic fibrosis]

NÉMETI Margit1, PAPP Zoltán2

MARCH 31, 1992

Lege Artis Medicinae - 1992;2(03)

[The frequency of the most common mutations of the CFTR gene was studied in families having children with cystic fibrosis. This study included 40 Hungarian families with a total of 140 family members. The results of mutation and haplotype analysis demonstrate that the most frequent mutation in the Hungarian cystic fibrosis population is the F508 which accunts for 70% of all the mutations. The most frequently occurring haplotype is B: 95,7% of the F508 CF chromosomes and 36% of the non-F508 chromosomes are associated with the haplotype B (KM-19: allele 2, XV-2c: allele 1). The molecular genetic analysis of CF families based on the study of the CFTR gene's mutations makes possible an improved prenatal diagnosis in high risk pregnancies. ]


  1. Tudományos Munkatárs
  2. Egyetemi Tanár Semmelweis Orvostudományi Egyetem I. sz. Szülészeti és Nőgyógyászati Klinika Budapest



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Lege Artis Medicinae

[A newly discovered vasoconstrictor peptide: endothelin]

SÜTŐ Tamás, DEVECSERI Zsuzsanna, ROSIVALL László

[The discovery of endothelium-derived relaxing (prostacyclin, EDRF) and contracting factors (EDCF) in the last decade opened up new vistas in investigating the regulation of the cardiovascular system. In this review, recent results of the research of a 21 amino acid residue EDCF, called Endothelin, including its discovery, isolation, biosynthesis, tissue specific expression, receptors and the characteristics of the Endothelin converting enzyme are summarized. Based on present knowledge of the wide variety of biological actions of Endothelins, we present their possible autocrine, paracrine and humoral actions, and their significance in the physiological regulation of the cardiovascular system as well as in pathological conditions. Despite the abundance of information however, the actual role of Endothelins in the short- and long-term modulation of the tissue function still remains to be determined.]

Lege Artis Medicinae

[ATP-sensitive potassium channels, and their modulators]

FINTA P. Ervin, PETER Illes

[Recently great interest has been concentrated on potassium channels inhibited by intracellular adenosine triphosphate (ATP-sensitive potassium channels), which connect the metabolic state of cells with their electrical activity. Channel closure initiates the secretion of insulin from pancreatic ß-cells; a number of hormones altering the level of blood-sugar act via these channels. The channels are present in neurones; they regulate both in the cell bodies and the nerve terminals (e. g. peripheral nerves) the excitability. The reby, in the central nervous system, they influence the neuronal activity both in the satiety center and some catecholaminergic brain nuclei. These channels mediate the effects of endogenous vasodilators in vascular smooth muscle. They have a pathophysiological role in protecting neurones and muscle cells from hypoxic damage. The ATP-sensitive potassium channels are targets of the sulphonylurea antidiabetic agents and of a new class of drugs, the potassium channel agonists. The latter compounds are investigated or used for the treatment of hypertension, angina pectoris, cardiac insufficiency, bronchial asthma, irritable bladder syndrome, chronic occlusive arterial disease and even in impotence. They are relatively well-tolerated drugs. Their adverse effects are related to their basic vasodilator profile and most commonly include headache, dizziness, palpitation or oedema. ]

Lege Artis Medicinae

[Native CT examination of the intraarticular ligaments of the knee joint]


[The high incidence of intra-articular ligament injuries of the knee justifies a more frequent use of noninvasive diagnostic procedures such as the native CT scan. In positive cases, a correct preoperative diagnosis may be produced; a negative result is especially important, since diagnostic arthroscopy may be avoided. Due to the anatomic arrangement of the knee joint ligaments and theis density, which differentiates them from adjacent structures, an accurate, reliable, and reproducible image can be obtained with the native CT scan. With the high resolution charactaristic of the native CT scan, the ligaments of Humphry and Wrisberg can be visualized, and the two bundles of the anterior cruciate ligament can be distinguished from one another. Exact localization of intra-articular ligament rupture is essential in the planning of an optimal treatment schedule. According to the literature and the authors experience, the native CT scan is equivalent to the MRI as a diagnostic procedure in knee intra-articular ligament lesions. It has the advantage of being far less expensive and it is presently available in Hungary. ]

Lege Artis Medicinae

[Dipyridamole test: comparative evaluation of simultaneous 2D echocardiography and 201TL scintigraphy in ischaemic heart disease]

GRUBER Noémi, FORSTER Tamás, VARGA Albert, ÉDES István, CSANÁDY Miklós, MESTER János, CERNAY László

[Simultaneous 2D echocardiography and 2017 scintigraphy were performed during dipyridamole testing (DT) in 57 patients with suspected IHD. The dipyridamole dose was 0.56 mg/kg/bm in 4 minutes. If no effect was observed, the test was continued from the eighth minute with a dose of 0.28 mg/kg/bm in 2 minutes. 2D echomonitoring of the left ventricular motion using apical views was initiated at the beginning of DT and continued for 7 or 13 minutes in case of the longer test. After 6.5 or 12.5 minutes, 74 MBq 201TI was injected intravenously. Standard planar scintigraphy was performed in 3 views starting within 15 minutes. On the basis of the clinical results, 25 patients were subsequently referred for coronary angiography. The sensitivity, specificity and positive and negative predictive values of 2D echocardiography were 79%,55%,69% and 67%, respectively. The corresponding values for 201TIscintigraphy were 93%, 27%, 62%, and 75%. Where the results of both methods were positive, the combined sensitivity and specificity values were 71% and 73%. The results indicate the suitability of both methods for detecting IHD. Furthermore, they suggest a higher specificity, but lower sensitivity of 2D echocardiogaphy as compared to 201TI scintigraphy. Our observations demonstrate that the com binaton of these 2 techniques is very useful in clinical practice for the evaluation of IHD.]

Lege Artis Medicinae

[Multiple Risk Factor Intervention Trial]

[The aim of the study: to investigate whether a multi-risk factor programme can reduce coronary heart disease mortality.]

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Lege Artis Medicinae



[In chronic obstructive airway diseases there are several unsolved questions regarding the early diagnosis, monitoring treatment, simple detection of exacerbations and the questions of differential diagnosis. These problems indicate the need for the development of new diagnostic methods and their application in clinical practice. This need is further emphasized by the fact that in most chronic airway diseases, including asthma and chronic obstructive pulmonary disease inflammation has a central role in the pathomechanism and its suppression is the main aim of treatment, but so far, we do not have adequate method for the assessment of inflammation intensity in clinical practice. In recent decades non-invasive sampling techniques directly from the airways have made a progress in respiratory research and at present some of them are available for clinical use. Among these techniques sputum induction, measurement of exhaled biomarkers including exhaled nitric oxide and mediators in exhaled breath condensate samples are used increasingly. The present review summarises our current knowledge on these methods and the most important findings obtained by their applications.]

Lege Artis Medicinae

[Treatment of chronic Pseudomonas aeruginosa lung infections in cystic fibrosis with inhaled tobramycin]


[BACKGROUND - Intermittent or chronic pulmonary infections caused by Pseudo­monas aeruginosa (Pa) deteriorate clinical status and worsen lung function in patients with cystic fibrosis (CF). The prognosis of the disease and life expectancy of patients are substantially dependent on lung infections and inflammation; therefore the primary goal of the treatment is the early termination of the infection. PATIENTS AND METHODS - Efficacy of tobramycin (TOBI® 300 mg/5 mL solution for inhalation, henceforth TOBI®) inhalation in Pa pulmonary infections was studied in a non-interventional, observational, open-label, single-arm trial in subjects with CF. Fifty-three patients aged six to 31 years (averaged 15.8 years) were enrolled into the study. Three treatment cycles of TOBI® inhalation (28 days on drug, 28 days off drug) plus 6 months observational period were evaluated. Primary endpoint was changing in the predictive values of forced expiratory volume in 1 sec (FEV1) compared to the initial values after three cycles of the treatment. Secondary endpoints were changing in the FEV1 predictive values at the end of the complete study compared to the initial values; ratios of patients with decreased density of originally Pa-positive result of sputum culture; as well as safety and tolerability of the TOBI® treatment. RESULTS - FEV1 and FEV1% results were unchanged comparing to the initial values at the end of the treatment and after the observational period in the whole study population. However, sputum cultures became negative in 47.2% of all subjects as a result of the treatment, and the FEV1 values were gradually increased in these patients: after the third treatment cycle plus 160 mL, and at the end of the study plus 110 mL comparing to the initial values. Similar considerable increase was detected in the predictive FEV1% in this sub-group: after the first cycle plus 5.2%, at the end of third cycle plus 7%, after the observational period above 3.8% considering the starting results. CONCLUSIONS - TOBI® inhalation proved to be effective in improvement of lung function results and eradication of infection in our patients with Pa positive CF. The treatment was well tolerated and safe.]

Lege Artis Medicinae

[Treatment of pneumothorax in cystic fibrosis]


[INTRODUCTION - More and more children affected by cystic fibrosis reach adulthood. The frequency of complications, such as pneumothorax, increases parallel with the long disease course. PATIENTS AND METHODS - The treatment of 17 manifestations of pneumothorax in 10 young adult cystic fibrosis patients in our institute was analysed retrospectively. RESULTS - Depending on the extension of pneumothorax and the clinical state of the patients the first choice of the treatment was observation alone in 6 cases, insertion of pleuracan in 3 cases and tube thoracostomy in 8 cases. Due to ineffective suction, thoracotomy was necessary in 6 patients, bilaterally in 3 cases. CONCLUSION - The outcome of conservative treatment even in "small, circumscribed pneumothorax" cases of symptom-free patients is uncertain and risky. Insertion of a pleuracan is recommended only in urgent, life-threatening cases, but definitive result should not be expected. If possible, chest drainage should be chosen as the first procedure. After 5-7 days of ineffective chest suction, thoracotomy is mandatory. Recurrence of the pneumothorax is direct indication for surgery. Antibiotic treatment is suggested for the duration of drainage, as well as for the surgical procedure.]

Hungarian Immunology

[Mutations of La gene: the proper reaction of the immune system]


[Numerous hypotheses have emerged to solve the problem and the pathomechanism of autoimmunity so far. Different factors are suspected, from viruses to neuroendocrine elements, to be a pathogen in the etiology of autoimmune diseases. Most of the theories are based on the assumption that something happens to the immune system and it leads to an autoimmune reaction against the proper self. This paper indicates that, at least in certain cases, the immune system reacts properly against the altered cells; therefore the cause of the autoimmunity lies in the other improper functioning of the body. Experimental data show that La autoantigen plays a role not only as a diagnostic marker but it may participate in the pathomechanism of certain autoimmune diseases as well. Mutations in the exon 7 of La gene have such consequences that could lead to the formation of autoimmune reactions detected.]

Clinical Neuroscience


JACQUES Epelbaum

[This short review will summarize some recent findings on the physiopathology of the endogenous ghrelin/obestatin system by focussing on experimental studies aiming at blocking the effects of endogenous ghrelin and clinical studies investigating genotype/phenotype correlations concerning the genes encoding for ghrelin and its cognate receptor.]