Polymorphisms of human glucocorticoid receptor gene in systemic lupus erythematosus: a single-centre result.

BACKGROUND: SLE is a systemic autoimmune disorder with multiple organ manifestations. Despite of the innovations glucocorticoids (GC) have still remained the first-line therapy in SLE. Besides HSD11B enzymes, intracellular glucocorticoid receptors (GR) affect tissue-specific cortisol effect and the consequent signalisation pathway. SNPs of the glucocorticoid receptor gene (NR3C1) modulate individual sensitivity to glucocorticoids. Our aim was to determine the allele frequency of the three, clinically most important SNPs in a SLE patient population in comparison to healthy volunteers and to find association with particular manifestations of SLE. METHODS: We analysed results of 104 SLE patients compared to 160 healthy subjects. All patients were genotyped for the functional GR polymorphisms BclI, N363S, and A3669G. The GR gene polymorphisms were determined using allele-specific PCR and Taqman allelic discrimination assays. RESULTS: The BclI allele frequency was lower in the SLE group compared to the healthy control group. The central nervous system and especially psychiatric symptoms developed more frequently in the BclI carriers compared to none carriers. The prevalence of theA3669G polymorphism was the same in both groups, but showed a negative association with the psychiatric symptoms. CONCLUSION: The increased and decreased sensitivity associated with GR BclI and A3669G polymorphisms could have a pathogenic significance in SLE especial with the central nervous system and psychiatric symptoms. Improving our knowledge on the importance of GR polymorphisms may reveal their pathophysiologic and therapeutic consequences.

[The spontaneous recanalization of the internal carotid artery. Case report]. / Az arteria carotis interna spontán rekanalizációja.

The occlusion of the internal carotid artery (ICA) frequently leads to stroke and develops most commonly as a consequence of embolism or atherosclerotic thrombosis. Following acute care, if the patient's general condition makes it possible, the patient is usually emitted from the hospital or, if necessary, his treatment continues in the rehabilitation department. The occlusion is generally considered irreversible, but a regular duplex ultrasonographic (sometimes CT angiographic) check of the patient is required. According to recent literature, spontaneous recanalization of the ICA may occur occasionally. The authors demonstrated by evaluating a local case that ICA occlusion is not necessarily permanent: through a case of a 67-year-old man, who suffered a right ICA occlusion, subsequent ichaemic stroke, then spontaneous recanalization of the occlusion allowing a successful endarterectomy later on, they overview the literature and propose appropriate prospective examinations to track patents with similar conditions. Orv Hetil. 2018; 159(37): 1525-1528.