66034T/C polymorphism of the human pregnane X receptor (hPXR) as potential risk factor for drug resistance in epilepsy - Preliminary study.

INTRODUCTION AND OBJECTIVES: Recent research has suggested that genetic factors may play an important role in the development of drug resistance in epilepsy. It is not clear which gene loci are responsible for the drug-resistant phenotype. Studying certain nuclear receptors may be helpful in predicting drug response, as they regulate drug transporting proteins and enzymes involved in their metabolism. This study focuses on one of these receptors, the human pregnane X receptor (hPXR). The objective was to examine the link between selected single nucleotide polymorphisms (SNPs) 69789A/G rs 7643645 and 66034T/C rs 13059232 hPXR and the lack of response to epilepsy treatment. MATERIALS AND METHODS: 73 patients diagnosed with drug-resistant epilepsy were included in the study. The diagnoses were made according to the criteria published by The International League Against Epilepsy (ILAE) in 2010. The control group was comprised of a group of 122 healthy volunteers. Genetic material isolated from the peripheral blood of the participants was analyzed with TagMan Genotyping Assays in search of the selected hPXR polymorphisms. RESULTS: The distribution of genotypes of the 66034T/C rs 13059232 hPXR polymorphism was significantly different in the group with drug-resistant epilepsy and the control group. In the drug-resistant group the CC genotype was significantly more common compared to the control group (50.7% vs 35.2%) p=0.0339. The distribution of 69789 A/G rs 7643645 hPXR genotypes was comparable in both groups. CONCLUSIONS: There is potential association between hPXR and drug resistance but its relevance for the development of drug-resistant phenotype remains to be studied.

[The difficulties with the diagnosis of cerebral sinus thrombosis of a young woman - a case report]. / Trudnosci diagnostyczne zakrzepicy zatok mózgowych u mlodej kobiety - opis przypadku.

UNLABELLED: Cerebral venous stroke is disfunction of brain cause by thrombosis of cerebral veins or thrombosis of sinus of the dura mater. This disease represents about 0,5-1% of all strokes. Women are ill more often. There are over 100 factors which cause this disease. The most often symptoms are headache, epileptic fit, oedema of optic nerve, loss of visual acuity, speech defects. Magnetic resonance proves the diagnosis. MRI with contrast is recommended. A CASE REPORT: We show the case of a young woman taking the oral contraceptive pill whose only symptom of venous thrombosis for a few days was a strong headache. When the woman was admitted to hospital, she didn't have any other symptoms ( in neurology examine, tomography and blood tests). The severity of headache after lumbar puncture (because of suspected subarachnoid bleeding) suggested presented of post-dural-puncture headache, which delayed the correct diagnosis. It was not until after the symptoms of the focal brain damage appeared on the fifth day that we finally made the correct diagnosis confirmed by some additional tests/examinations. Thus we started causal and symptomatic treatment. The difficulties we had with making the correct diagnosis indicate that the recognition of cerebral thrombosis should be taken into account when treating every young woman taking contraceptive pills and suffering from strong headaches. Headaches can be the only symptom of venous stroke in 90% of cases.