A duplication dup(4)(q28q35.2) de novo in a newborn

We report here a case of a newborn with hypotrophy and somatic stigmatization: microcephaly, facial dysmorphism, heart defect and immunodeficiency syndrome. The proband's karyotype was 46,XY,dup(4)(q28q35.2) de novo with chromosomal breaks in 4% of metaphases. We demonstrate the usefulness of a combination of physical examination, classical cytogenetics, FISH and PCR techniques in order to establish correct diagnosis because of overlap of some clinical and cytogenetic features of Nijmegen breakage syndrome (NBS) and duplication 4q in our patient. Although FISH technique detected translocation t(14q;21q) in 4 metaphases, deletion 657del5 in exon 6 of the NBS1 gene associated with NBS in Slavic population was not confirmed. We compare in this report similarity of the clinical picture of our patient, NBS cases and other patients carrying a duplication of the distal part of 4q as described in the literature.     

The gut flagellate community of the termite Neotermes cubanus with special reference to Staurojoenina and Trichocovina hrdyi nov. gen. nov. sp

At least seven species of flagellates have been found to inhabit the paunch of the termite Neotermes cubanus. Staurojoenina sp. is the largest species, measuring 100-150mum in length. Three small parabasalids belong to the genera Tritrichomonas, Metadevescovina, and Foaina. A fourth small type is described as Trichocovina hrdyi nov. gen. nov. sp.; the combination of features in this flagellate, such as the presence of a costa, undulating membrane and spiralled dictyosome, does not fit to any known genus. The two oxymonad species do not possess a rostellum. One belongs to the family Polymastigidae; it has one unattached flagellum and three partially attached flagella. The second is a member of the family Pyrsonymphidae, but this one possesses ring-like surface structures, one free flagellum and three spirally attached flagella. It is the first report of a pyrsonymphid in a kalotermitid termite.     

African Odyssey project – satellite tracking of black storks Ciconia nigra breeding at a migratory divide

The African Odyssey project focuses on studying the migration of the black stork Ciconia nigra breeding at a migratory divide. In 1995–2001, a total of 18 black storks breeding in the Czech Republic were equipped with satellite (PTT) and VHF transmitters. Of them, 11 birds were tracked during at least one migration season and three birds were tracked repeatedly. The birds migrated either across western or eastern Europe to spend the winter in tropical west or east Africa, respectively. One of the juveniles made an intermediate route through Italy where it was shot during the first autumn migration. The mean distance of autumn migration was 6,227 km. The eastern route was significantly longer than the western one (7,000 km and 5,667 km respectively). Important stopover sites were discovered in Africa and Israel. Wintering areas were found from Mauritania and Sierra Leone in the west to Ethiopia and Central African Republic in the east and south. One of the storks migrating by the eastern migration route surprisingly reached western Africa. Birds that arrived early in the wintering areas stayed longer than those arriving later. On the average, birds migrating via the western route spent 37 d on migration compared to 80 d for birds migrating via the eastern route. The mean migration speed in the autumn was 126 km/d and the fastest stork flew 488 km/d when crossing the Sahara. The repeatedly tracked storks showed high winter site fidelity.     

Laccase-mediated dimerization of the flavonolignan silybin

Flavonolignan silybin (1) present in the seeds of the milk thistle (Silybum marianum) is widely used in human therapy of liver dysfunctions and as a hepatoprotectant thanks to its dual function: it acts as a highly effective radical scavenger (antilipoperoxidant) and also as an antioxidant. Molecular mechanisms of antiradical action of 1 and even functional groups responsible for this activity are not well known so far. Silybin forms during in vitro reaction with stable radicals (e.g., DPPH) or with enzyme laccase (Trametes pubescens) complex mixtures of oligomeric and polymeric products whose structural analysis is virtually impossible. Methylation of 7-OH in 1 yields under laccase-mediated oxidation C–O and C–C dimers in the ratio ca. 1:2.5. Using this approach, the hydroxyl groups responsible for antiradical activity of silybin (20-OH group) were determined and the molecular mechanism of the E-ring antiradical activity was explained.     

Possibilities and problems with identification and determination of "new" hypnotics

Authors discuss problems with identification and determination of flunitrazepam and zolpidem in biological material (BM). Over the recent years, these two structurally different substances have become the most frequently used as well as abused hypnotic drugs. This study presents applicability of immunochemical methods in the screening of flunitrazepam, one of the most commonly prescribed drugs among the benzodiazepines. Herein described techniques, a liquid-liquid (L-L) extraction, solid phase extraction (SPE) and the so-called "freeze out" method are used for isolation of the above mentioned compounds from BM. Besides the thin layer chromatography (TLC) and gas chromatography - mass spectrometry (GC-MS) applied in qualitative analysis, the study also describes a gas chromatography with electron capture detector (GC-ECD) and gas chromatography with nitrogen phosphorus detector (GC-NPD) optimized for the determination of flunitrazepam and zolpidem in blood (serum). Successful analyses of these two substances are of major importance, especially in interpreting the results of forensic toxicological examinations.     

Synthesis of racemic and enantiomeric 3-pyrrolidinyl derivatives of purine and pyrimidine nucleobases

The present work relates to the synthesis of pyrrolidine nucleoside analogs. Starting from malic acid, we have elaborated a high-yield synthesis of racemic and enantiomeric N-protected 3-pyrrolidinols and their O-mesyl derivatives as key compounds for alkylations of purine and pyrimidine nucleobases. On varying base and solvent, we have found conditions providing both satisfactory N-/O-regioisomeric ratio and acceptable yield for pyrimidine compounds.     

"Endomicrobia": cytoplasmic symbionts of termite gut protozoa form a separate phylum of prokaryotes

Lignocellulose digestion by wood-feeding termites depends on the mutualistic interaction of unusual, flagellate protists located in their hindgut. Most of the flagellates harbor numerous prokaryotic endosymbionts of so-far-unknown identity and function. Using a full-cycle molecular approach, we show here that the endosymbionts of the larger gut flagellates of Reticulitermes santonensis belong to the so-called termite group 1 (TG-1) bacteria, a group of clones previously obtained exclusively from gut homogenates of Reticulitermes speratus that are only distantly related to other bacteria and are considered a novel bacterial phylum based on their 16S rRNA gene sequences. Fluorescence in situ hybridization with specifically designed oligonucleotide probes confirmed that TG-1 bacteria are indeed located within the flagellate cells and demonstrated that Trichonympha agilis (Hypermastigida) and Pyrsonympha vertens (Oxymonadida) harbor phylogenetically distinct populations of symbionts (<95% sequence similarity). Transmission electron microscopy revealed that the symbionts are small, spindle-shaped cells (0.6 microm in length and 0.3 microm in diameter) surrounded by two membranes and located within the cytoplasm of their hosts. The symbionts of the two flagellates are described as candidate species in the candidate genus "Endomicrobium." Moreover, we provide evidence that the members of the TG-1 phylum, for which we propose the candidate name "Endomicrobia," are phylogenetically extremely diverse and are present in and also restricted to the guts of all lower termites and wood-feeding cockroaches of the genus Cryptocercus, the only insects that are in an exclusive, obligately mutualistic association with such unique cellulose-fermenting protists.     

Dracophane,a metacyclophane derivative from the resin of Dracaena cinnabari Balf

Dracophane, a novel structural derivative of metacyclophane, was isolated from the resin of Dracaena cinnabari Balf. The structure of this compound was determined by spectroscopic methods to be 3,12,21-trihydroxy-1,10,19-tris(4-hydroxyphenyl)-5,14,23-trimethoxy[3.3.3]metacyclophane.     

Covalent transfer of heavy chains of inter-alpha-trypsin inhibitor family proteins to hyaluronan in in vivo and in vitro expanded porcine oocyte-cumulus complexes

Previous studies have shown that the heavy chains (HCs) of serum-derived inter-alpha-trypsin inhibitor (IalphaI) molecules become covalently linked to hyaluronan (HA) during in vivo mouse cumulus expansion and significantly contribute to cumulus matrix organization. Experiments with mice suggest that the incorporation of such proteins in cumulus matrix appears to be rather complex, involving LH/hCG-induced changes in blood-follicle barrier and functional cooperation between cumulus cells, granulosa cells, and oocyte within the follicle. We demonstrate here that HC-HA covalent complexes are formed during in vivo porcine cumulus expansion as well. Western blot analysis with IalphaI antibody revealed that follicular fluids from medium-sized follicles and those from large follicles unstimulated with hCG contain high levels of all forms of IalphaI family members present in pig serum. The same amount of HCs were covalently transferred from IalphaI molecules to HA when pig oocyte-cumulus complexes (OCCs) were stimulated in vitro with FSH in the presence of pig serum or follicular fluid from unstimulated or hCG-stimulated follicles. In addition, HC-HA coupling activity was stimulated in cumulus cells by FSH treatment also in the absence of oocyte. Collectively, these results indicate that IalphaI molecules can freely cross the blood follicle barrier and that follicular fluid collected at any stage of folliculogenesis can be successfully used instead of serum for improving OCC maturation. Finally, pig cumulus cells show an autonomous ability to promote the incorporation of IalphaI HCs in the cumulus matrix.