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Primary liver neoplasms occurs relatively rarely in Poland. The most frequently occurring type of cancer is hepatocellular carcinoma (HCC), which globally constitutes 7% of all the occurrences of cancer. The incidence increases with age and is the highest in patients around the age of 70. It also varies significantly depending on the geographic location. The main factors that cause HCC are infection of HBV and HCV, whose genome integrates into the DNA of the host, causing mutations. The other factors include excessive alcohol consumption, contact or consumption of Aspergillus toxins as well as various metabolic disorders, such as α1-antitrypsin deficiency, hemochromatosis, tyrosinemia, porphyria, von Gierke disease and in person with gene mutation p.I148M of adiponutrin. HCC is usually detected incidentally, during ultrasound examination or during clinical diagnosis of liver failure. HCC can be diagnosed using computed tomography (CT) or magnetic resonance imaging (MRI), which is considered the most accurate diagnostic method. A core needle biopsy or the examination of the level of markers such as: alpha-fetoprotein (AFP), D-gamma-carboxy prothrombin (DCP), tumourassociated glycoprotein 72 (CA 72-4, TAG-72), are advised for a complete diagnostics.

The aim of the study was the evaluation of chromosomal aberrations, especially locus q11-q13 of chromosome 15 and polymorphisms in the g-aminobutyric acid receptor subunit B3 gene (GABRB3) and genetic aetiology of autistic disorder. We studied 20 probands (aged 4-27 years old) and their parents and siblings (73 persons). Following cytogenetic methods were used: conventional GTG-banding analysis, study of fra(X), fluorescence in situ hybridisation, with two specific probes: SNRPN and UBE3A/D15S10. Dinucletide (CA)n repeat polymorphism at the GABRB3 gene was analysed using PCR-STR method. Chromosomal analysis revealed paracentomere inversion--46, XX, inv(9)(p11q13) in 1 patient, but this is frequently found in population chromosomal variation. FISH didn't reveal abnormalities in 15q11-q13 region. ETDT analysis didn't reveal connection between autistic disorder and studied marker. Lack of anomalies in 15q11-q13 region may be related to small number of probands, heterogenity of studied group and small number of studied locus and markers. So conclusions should be related only to this studied group, and not to all autistic patients.

The aim of the study is the assessment of efficacy of combined treatment (preoperative chemotherapy and surgery) of locally advanced non-small cell lung cancer. Material included sixty-two NSCLC patients treated in the Department of Thoracic Surgery of Medical School of Lublin between February 1993 and October 1997. Treatment was started with 2 or 3 courses of chemotherapy. In 51 cases chemotherapy was based on Cisplatin. Response (CR + PR) to chemotherapy was observed in 30 cases (48.8%). 21-25 days after last course of chemotherapy resections were carried out. In 1 case it was lobectomy, in 25 cases--pneumonectomy and in 36--extended pneumonectomy. In 56 cases resection was radical, in 6 cases non-radical. No perioperative deaths or bronchial fistulas were observed. Median survival was 21.4 months and 5-years survival--35.25%. The results confirm the usefulness of preoperative chemotherapy in locally advanced NSCLC.

Hereditary motor-sensory neuropathies (HMSN) are a heterogeneous group of disorders of peripheral nervous system. Four genes in HMSN have been characterized so far i.e.: PMP22, MPZ, Cx32 and EGR-2. The advent of molecular genetic techniques over the past few years has provided identification of molecular defects in a few forms of HMSN. The present study describes the application of modern molecular genetic methods, which are used in the studies of HMSN. Southern blot hybridisation, Fluorescence in situ hybridisation (FISH), Short Tandem Repeat analysis (STR), Semiquantitative PCR analysis (SQ-PCR), Single Strand Conformation Polymorphism method (SSCP), Heteroduplex analysis (HD) and finally DNA automated sequencing are described in the present paper. In the conclusions the advantages and limits of mentioned methods of DNA analysis in HMSN have been described.