Rett syndrome (RTT, MIM No. 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation. It is transmitted as an X-linked dominant trait, therefore almost exclusively affecting females. About 80% of RTT cases are sporadic caused by mutations in the MECP2 gene located on Xq28. The gene codes for two isoforms of the methyl-CpG-binding protein (MeCP2, MeCP2B) which are involved in transcriptional silencing through DNA methylation. The gene has 4 exons. The fourth one is the largest. Almost all mutations in MECP2 occur de novo. Although mutations are dispersed throughout the gene, about 67% of all MECP2 mutations, caused by C>T transitions at 8 CpG dinucleotides, are located in the third and fourth exon. The most common mutation is R168X. So far, there is no clear evidence on genotype-phenotype correlations. There are also reports claiming that the same mutation can provoke different phenotypes. It was shown that MeCP2 can silence certain genes. One of them, brain-derived neurotrophic factor, is essential for neural plasticity, learning and memory. This discovery revealed the role of MeCP2 in the control of neuronal activity-dependent gene regulation and suggested that the pathology of RTT may result from deregulation of this process.

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SummaryBackgroundTo retrospectively analyze the outcomes of interventional radiology treatment of patients with hepatic artery stenosis (HAS) after liver transplantation at our Institution.Material/MethodsHepatic artery stenosis was diagnosed and treated by endovascular technique in 8 (2.8%) patients, who underwent liver transplantation between July 2007 and July 2011. Patients entered the follow-up period, during which we analyzed hepatic artery patency with Doppler ultrasound at 1, 3, 6, and 12 months after percutaneous endovascular treatment (PTA), and every six months thereafter.ResultsDuring the 12-month follow-up period, 6 out of 8 patients (75%) were asymptomatic with patent hepatic artery, which was confirmed by multislice computed tomography (MSCT) angiography, or color Doppler (CD) ultrasound. One patient had a fatal outcome of unknown cause, and one patient underwent orthotopic liver retransplantation (re-OLT) procedure due to graft failure.ConclusionsOur results suggest that HAS angioplasty and stenting are minimally invasive and safe endovascular procedures that represent a good alternative to open surgery, with good 12-month follow-up patency results comparable to surgery.

Metabolic pathways and the pharmacokinetic profile of mefenorex «±)N-(3-chloropropyl)-1-methyl-2-phenylethylamine), and its main metabolite amphetamine (l-methyl-2-phenylethylamine) have been studied in two healthy volunteers, after a single oral dose of mefenorex (1.2 mglkg body weight for a male subject and 2.4 mglkg body weight for a female subject). Urinary concentrations were determined by gas chromatography (GC) and metabolite structure was identified by GCJMS following derivatization of urine extracts. The ratio of this metabolite to unchanged drug in urine samples, collected up to 5 h following administration, was essentially the same after either of the administered doses.The calculated KeI for mefenorex after the higher dose was in the range of 0.191-0.272 h-I, with a biological half life (tm) of 3.98-2.55 h, depending on the method of calculation used. The elimination of amphetamine was much slower with a Kel ranging from 0.039-0.073 h-I and a tIn from 9.5-17.8 h. Depending on the dose administered, the rate constant of metabolite formation was 0.129 and 0.685 h-I for low and high doses, respectively.Urinary excretion of Rondimen S amounted to 11.9% within 72 h after administration. Of this amount, 1.5% represented unchanged drug and 10.4% represented metabolites. In addition to amphetamine 3 other metabolites were identified: p-hydroxy mefenorex, p-hydroxy amphetamine and p-hydroxy-m-methoxy mefenorex.

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