Opioid availability in Poland is an important issue in pain management of patients, especially in those with chronic pain as well as from a point of view of possible harm associated with opioid use. ...In this article current situation regarding opioid availability for cancer and non-cancer patients and the problem of opioid dependence was depicted. The base of this article is a Conference entitled "Polish National Symposium on Access to Opioid Medication" held in as part of the 7th Framework Project of the European Union "ATOME" that was aimed for an improvement of opioid availability and harm reduction in Central-Eastern European countries. Several changes were proposed from one hand at improvement of opioid availability for patients who require such a treatment and from the other hand directed at limiting inappropriate use and a decrease of a risk of an addiction development. The necessity of a close cooperation of those who treat patients with opioids and subjects involved in the management of opioid addiction, patients and families with governors who elaborate law regulations regarding opioid use was emphasized. Authors of this article recommend for opioids that are used for the treatment of pain and other symptoms which are often called publicly and in legal documents "narcotic" and "stupefacient" the use of a term "opioid analgesics".
Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CMB, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher ...disease.
Pelizaeus–Merzbacher disease is an early onset dysmyelinating leukodystrophy. About 80% of PMD cases have been associated with duplications and mutations of the proteolipid protein 1 (PLP1) gene. Pelizaeus–Merzbacher‐like disease is a genetically heterogeneous autosomal recessive disease and rarely caused by mutations in gap junction protein α12 (GJA12/GJC2) gene. The molecular basis of the disease was investigated in a cohort of 19 Turkish families. This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 gene, showed equal frequencies of PLP1 and GJA12/GJC2 mutations at least in our cohort, and suggested further genetic heterogeneity.
Deletion of 13q14 is the most common cytogenetic change in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and is detected in about 50 % of patients by fluorescence in situ ...hybridization (FISH), which can reveal presence of del(13)(q14) and mono- or biallelic deletion status without information about the size of the lost region. Array-comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) can detect submicroscopic copy number changes, loss of heterozygosity (LOH) and uniparental disomy (UPD) regions. The purpose of this study was detection of the size of del(13)(q14) deletion in our group of patients, comparing the size of the monoallelic and biallelic deletions, detection of LOH and UPD regions.
We have investigated 40 CLL/SLL patients by karyotype, FISH and CGH and SNP array. Mutational status was of immunoglobulin heavy-chain variable-region (IGVH) was also examined. The size of deletion ranged from 348,12 Kb to 38.97 Mb. Detected minimal deleted region comprised genes: TRIM13, miR-3613, KCNRG, DLEU2, miR-16-1, miR-15a, DLEU1. The RB1 deletions were detected in 41 % of cases. The average size in monoallelic 13q14 deletion group was 7,2 Mb while in biallelic group was 4,8 Mb. In two cases 13q14 deletions were located in the bigger UPD regions.
Our results indicate that bigger deletion including RB1 or presence of biallelic 13q14 deletion is not sufficient to be considered as adverse prognostic factor in CLL/SLL. CytoSure Haematological Cancer and SNP array (8x60k) can precisely detect recurrent copy number changes with known prognostic significance in CLL/SLL as well as other chromosomal imbalances. The big advantage of this array is simultaneous detection of LOH and UPD regions during the same test.
The structure of peucedanin, isolated from Peucedanum tauricum Bieb. (Apiaceae), has been established using single crystal X-ray diffraction. This furanocoumarin isolated from the light petroleum ...extract of P. tauricum fruits was characterized by high resolution EI-MS, sATR-FTIR and 2D NMR spectroscopic techniques. The EI-MS showed the typical fragmentation pattern of methoxyfuranocoumarins. Extensive 1D (1H and 13C) as well as 2D NMR data enabled complete assignment of the carbon atoms in the peucedanin molecule. The FTIR data confirms intermolecular hydrogen bonding between peucedanin molecules in polar solvents. Peucedanin crystallises in the R-3 space group from the trigonal system with one molecule in the asymmetric part of the unit cell. The crystal lattice of peucedanin consists of the molecules arranged in separate columns. They are related by two fold screw axes and centres of symmetry. Interestingly, peucedanin columns form two channels per unit cell with a diameter of 7.5Å going through the crystal lattice in the Z-direction. These channels are filled with disordered water molecules, which are surrounded by hydrophobic methyl groups and are located exactly at the centres of the channels. The peucedanin molecules are stacked in a single column with the opposite orientation of the neighbouring molecules. These results could be interesting in further application of this molecule, for example in biological tests of its activity.
Fruits of
Peucedanum tauricum contain, among other constituents, two guaiane type sesquiterpene hydrocarbons, guaia-1(10),11-diene (
1) and guaia-9,11-diene (
2) as well as officinalin isobutyrate (
...5).
From the essential oil of fruits of
Peucedanum tauricum Bieb., two guaiane type sesquiterpene hydrocarbons guaia-1(10),11-diene (
1) and guaia-9,11-diene (
2) were identified. The structures of
1 and
2 were assigned by 1D and 2D NMR analysis. The relative configurations of the compounds were established by 2D-NOESY experiments while the absolute configurations were deduced through chemical correlations with (+)-γ-gurjunene (
9) and capillary GC analysis using modified cyclodextrins as the stationary phases. From the dichloromethane extract of the less volatile fraction of the fruits, coumarins, viz. peucedanin (
3), oxypeucedanin hydrate (
4) and officinalin isobutyrate (
5) were isolated. Compound
5 was confirmed to be 6-carbomethoxy-7-isobutyroxycoumarin by its 1D and 2D NMR data as well as by conversion into officinalin (
7) by alkaline hydrolysis. Peuruthenicin, a positional isomer of officinalin, is assigned structure
8 on spectral basis. Bergapten (
6) was identified by its mass spectrum. This is the first report on the isolation of compounds
4 and
5 from
P. tauricum.
The structure of peucedanin, isolated from Peucedanum tauricum Bieb. (Apiaceae), has been established using single crystal X-ray diffraction. This furanocoumarin isolated from the light petroleum ...extract of P. tauricum fruits was characterized by high resolution EI-MS, sATR-FTIR and 2D NMR spectroscopic techniques. The EI-MS showed the typical fragmentation pattern of methoxyfuranocoumarins. Extensive 1D (1H and 13C) as well as 2D NMR data enabled complete assignment of the carbon atoms in the peucedanin molecule. The FTIR data confirms intermolecular hydrogen bonding between peucedanin molecules in polar solvents. Peucedanin crystallises in the R-3 space group from the trigonal system with one molecule in the asymmetric part of the unit cell. The crystal lattice of peucedanin consists of the molecules arranged in separate columns. They are related by two fold screw axes and centres of symmetry. Interestingly, peucedanin columns form two channels per unit cell with a diameter of 7.5angstrom going through the crystal lattice in the Z-direction. These channels are filled with disordered water molecules, which are surrounded by hydrophobic methyl groups and are located exactly at the centres of the channels. The peucedanin molecules are stacked in a single column with the opposite orientation of the neighbouring molecules. These results could be interesting in further application of this molecule, for example in biological tests of its activity.
DNA copy number variations (CNV) constitute an important source of genetic variability. The standard method used for CNV detection is array comparative genomic hybridization (aCGH).
We propose a ...novel multiple sample aCGH analysis methodology aiming in rare CNVs detection. In contrast to the majority of previous approaches, which deal with cancer datasets, we focus on constitutional genomic abnormalities identified in a diverse spectrum of diseases in human. Our method is tested on exon targeted aCGH array of 366 patients affected with developmental delay/intellectual disability, epilepsy, or autism. The proposed algorithms can be applied as a post-processing filtering to any given segmentation method.
Thanks to the additional information obtained from multiple samples, we could efficiently detect significant segments corresponding to rare CNVs responsible for pathogenic changes. The robust statistical framework applied in our method enables to eliminate the influence of widespread technical artifact termed 'waves'.
The Mediator complex subunit 13-like is a part of the large Mediator complex. Recently, a large number of patients were diagnosed with mutations in this gene, which makes it one of the most frequent ...causes of syndromic intellectual disability. In this work, we report a patient with a novel
likely pathogenic variant c.5941C>T, p.(Gln1981*) in the
gene with severe intellectual disability and facial dysmorphism. Uncommon findings like lack of speech, strabismus and self-destructive behaviour present in our patient allowed us to further define the phenotypic spectrum of mental retardation and distinctive facial features with or without cardiac defects syndrome.
Essential oil from fruit of Peucedanum tauricum Bieb, was qualitatively and quantitatively investigated. The content of oil determined by distillation with water and m-xylene was 2.2% of dry mass. ...Gas chromatography (GC) with MS detection and flame ionisation detection (FID) showed that the oil contains 28 compounds (above 99% of sesquiterpenes), of which 9 were identified as beta-elemene (0.6%), beta-caryophyllene (0.3%), alpha-guaiene (0.2%), alpha-humulene (0.8%), gamma-gurjunene (5.6%), beta-selinene (2.3%), alpha-selinene (2.2%), gamma-cadinene (0.3%). Predominating sesquiterpenoids (RI 1529--35.9%, RI 1526--27.2%, RI 1537--7.1%) were not identified, and their mass spectra were similar to mass spectra of selinene derivatives.
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