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Pompe disease (PD) is a rare lysosomal disease caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes. Clinically, the disease has been classically classified in infantile and childhood/adult forms. Presently cc. close to 600 mutations distributed throughout the whole gene have been reported. The c.-32-13T>G splice mutation that is very common in patients of Caucasian origin affected by the childhood/adult form of the disease, with an allelic frequency close to 70%. Enzyme replacement treatment (ERT) is available for the patients with Pompe disease (Myozyme). In this paper, we are presenting the long term follow up of 13 adult onset cases treated more than 5 years. The longest follow up was 15 years. To evaluate the treatment efficacy, the 6 minutes walking test (6MWT) and the respiratory functions were monitored annually. The analysis revealed that at the beginning of ERT for 3-4 years the 6MWT had been generally increasing, then it declined, and after 10 years it was lower in 77% of the cases than it had been at the start of the treatment. In 23% of the cases the 6MWT increased during the follow up time. Only one of the patients become wheelchair dependent during the follow-up period. The respiratory function showed similar results especially in supine position. A high degree of variability was observed among patients in their responses to the treatment, which only partially associated with the antibody titer against the therapeutic protein. The efficacy of the ERT was associated with the type of the disease causing mutation, the baseline status of the disease, the lifestyle and the diet of the patient. The long-term follow up of the patients with innovative orphan drugs is necessary to really understand the value of the treatment and the need of the patients.

It is well-known that obesity has a marked effect on many of the routinely used laboratory parameters. An obvious example is the serum level of various blood lipids: hyperlipidemia, hypercholesteremia are often observed in obese people. Our research aimed to provide a more thorough understanding of the effects of obesity on laboratory parameters, concentrating on every laboratory parameter, not just those that are already established as being related to obesity. We focused on adolescent population, as they are the most important from the public health point of view. To that end, we performed a cross-sectional clinical study that included the observation of n=148 male children (aged 12–16 year), consisting of healthy volunteers from four Hungarian secondary schools and obese patients treated with E66.9 “Obesity, unspecified” diagnosis (ICD-10). Observation included the recording of 27 laboratory parameter from a fasting blood sample. To explore this database, we performed a Principal Components Analysis (PCA) and Factor Analysis (FA) to ease the understanding of correlations of the laboratory parameters by identifying those groups of variables that have stochastic connection. Such connections between laboratory parameters were further analyzed by agglomerative hierarchical clustering of the variables. These all confirmed that stochastically connected laboratory parameters - with different physiological interpretation - can be in fact identified.

Obesity is a rapidly spreading endemic in almost every country of the developed world, of which Hungary is no exception. By a joint research project we aim to deepen our understanding of obesity-associated, and especially obesity-predicting changes of clinical markers (anthropometric indices, body composition, laboratory results etc.) in children, especially in teenage population. This paper presents the preliminary results of our investigations which pertain to obesity-related alterations in routine blood test parameters. For that end, we examined 340 healthy and obese children. Results show that there are differences between the routine laboratory parameters of obese and healthy subjects that are both statistically significant and medically interesting. We point out these differences in a statistically precise way, and show a method which can be efficiently used to classify children based on their laboratory parameters. This result can be used later to develop a more realistic model to predict the risk of obesity.

A porc-haj hypoplasia ritka, autoszomális recesszív öröklődésmenetű primer immunhiány-betegség, amelyre a döntően T-sejtes immundeficiencia mellett metaphysealis chondrodysplasia jellemző. A közleményben a szerzők egy esetismertetés kapcsán mutatják be a betegség klinikumát és a jellemző laboratóriumi leleteket, összefoglalják a kórkép molekuláris patomechanizmusával kapcsolatos ismereteket és a kezelés lehetőségeit.

The occurrence of micronuclei proved to be a sensitive biological indicator of clastogenic effects of many chemical and physical agents. The possibility of using the micronucleus technique in radiation protection as an alternative to the traditional chromosomal analysis has recently been followed with increasing interest. This review outlines the main biological and practical aspects of the micronucleus assay and discusses its potential to serve as a rapid and reliable measure of radiation overexposures and hypersensitivities.