Case report: natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons

Y-chromosomal microdeletions, associated with oligozoospermia or azoospermia, are usually de novo deletions in the affected patients. We report here the rare case of an affected father who transmitted a Y-chromosomal microdeletion to at least two of his three sons naturally and who also fathered a daughter. The extent of the deletion, which was determined with new STS-primers and covers 3.5 Mb, was identical in the father and his azoospermic sons. To determine any possibly modifying influence of other genes involved in spermatogenesis, we analysed two polymorphisms of the DAZL gene, the autosomal homologue of the deleted DAZ gene. DAZL and DAZ might be functionally related to each other. However, we found identical polymorphisms in exon 2 and 3 of the DAZL gene, in both father and his sons, corresponding to the most prevalent genotype in fertile men. Thus, other genes or environmental factors must modify spermatogenesis in men with identical Y-chromosomal microdeletions.     

Psoriasis and drugs: influence of tetracyclines on the course of psoriasis

Patients with psoriasis vulgaris (462) were studied by questionnaire to find the effect on psoriasis of drug therapy for intercurrent diseases or focal infections. Of 462 patients with psoriasis, in 76 (16.45%) the disease became more severe during drug therapy. Of these, 19 worsened after administration of tetracyclines, and in five psoriasis was precipitated after therapy with drugs of the tetracycline family. We suggest that tetracyclines should be avoided in patients with psoriasis and in healthy persons with a genetic predisposition (positive family history, human leukocyte antigens B13, B17, B27).     

Alpha 7 nicotinic receptor subunit is present on serotonin neurons projecting to hippocampus and septum

The serotonergic transmitter system regulates hippocampal activity through its raphe projection to hippocampus and medial septum/diagonal band of Broca complex (MS/DBB), and most likely also indirectly through its interaction with the cholinergic neurotransmitter system. Nicotine, e.g., enhances hippocampal serotonin release probably through presynaptic nicotinic receptors. We investigated the possible presence of the alpha 7-nicotinic subunit on serotonergic neurons projecting to hippocampus and MS/DBB. By retrograde neuronal tracing, hippocampal serotonergic neurons were identified and with double fluorescence immunostaining and Alexa-488 bound alpha-bungarotoxin the presence of active alpha 7 receptor on their soma was determined. Most of the retrogradely labeled serotonin neurons contained the alpha 7 subunit. A low degree of colocalization between alpha-bungarotoxin and serotonin-positive neurons suggest that the alpha 7 subunit may be transported anterogradely to the serotonergic axonal terminals.     

Stability of the complexes of some lanthanides with coumarin derivatives. I. Cerium(III)-4-methyl-7-hydroxycoumarin

A complex of cerium(III) with 4-methyl-7-hydroxycoumarin was synthesized by mixing water solutions of cerium(III) nitrate and 4-methyl-7-hydroxycoumarin sodium salt in a metal-to-ligand molar ratio of 1:2. The complex was characterized and identified by elemental analysis, conductometry, IR, 1H and 13C NMR-spectroscopy, mass spectral data, DTA and TGA. Thermal analysis of the complex indicated the formation of a compound of the composition CeR2(OH).5H2O, R standing for the ligand. The reaction of cerium(III) with 4-methyl-7-hydroxycoumarin was studied in detail by the spectrophotometric method. The stepwise formation of two complexes, vis., CeR2+ and CeR2+, was established in the pH region studied. The equilibrium constants for 1:1 and 1:2 complexes were determined to be 10.72 and 9.22, respectively.     

Occupational and personal risk factors for musculo-skeletal disorders in fertilizer plant workers

The aim of this study was to evaluate the impact of some personal and work-related risk factors for the occurrence and development of MSDs as well as to assess the prevalence and relative risk by means of odds ratio and 95% confidence interval. SUBJECTS: Of this comprehensive cross-sectional study were 921 workers and employees from the four main departments of the plant. The following complex of methods was applied: personal anamnesis, occupational history, physical examination, clinical laboratory testing, anthropometric examination, conventional radiography and statistical methods. RESULTS: Age is the first risk factor, discussed by authors. The data showed highly significant differences in the prevalence of MSDs--9.48% in the risk group versus 1.97% in the reference group (OR 5.21, 95% CI 2.42-11.61). Gender is the second risk factor strongly related to MSDs in combination with age. The prevalence of MSDs is higher for women over 40 years that for men over 40 years: OR is 6.43 with 95% CI 1.73-28.23 versus OR 4.66 with 95% CI 1.80-12.77). Obesity is the third risk factor for MSDs. The data showed highly significant differences in the prevalence of MSDs--7.03% in risk group versus 3.08% in reference group, OR 2.38 with 95% CI 1.10-5.30. Smoking for more than 20 years also increases the risk of developing MSDs. At this stage of the research, there is no proof of the impact of hypercholesterolemia, non-occupational or work-related strain on the development of MSDs. The authors' conclusion is that these results may support programs for health promotion and health prevention.     

G-protein-coupled receptors in normal human erythroid progenitor cells

Human erythroid progenitor cells were isolated from peripheral blood of healthy donors and amplified in a suspension culture system using recombinant growth factors (stem cell factor, interleukin-3, granulocyte-macrophage colony-stimulating factor and erythropoietin) as well as conditioned medium from a human bone marrow stroma cell line to support cell proliferation. After 6–8 days of culture, the cell population consisted mainly of erythroid colony-forming cells (burst-forming units, BFU-Es and colony-forming units, CFU-Es). In these cells, we studied ligand-induced changes in intracellular Ca ²⁺ concentration ([Ca²⁺]_i) and cAMP formation as the primary effector systems of guanine nucleotide-binding protein (G protein)-coupled receptors. The results confirmed the functional expression of receptors for adenosine (type A_2B), prostaglandin Et and isoprenaline (\-adrenoceptor), all of which stimulated adenylyl cyclase, as well as for ADP (purinoceptor types P_2T and P_2U), platelet-activating factor and thrombin all of which caused a transient increase in [Ca²⁺]_j. The efficacy of adenosine and prostaglandin El in stimulating cAMP formation was more than 5 times higher than that of isoprenaline, suggesting a low \-adrenoceptor density. The response to adenosine and isoprenaline decreased by 80 and 55% respectively during maturation into the proerythroblast stage. Similarly, thapsigargin-sensitive intracellular Ca ²⁺ stores and ligand-induced Ca ²⁺ release declined by about 60% during the CFU-E-to-erythroblast transition. The overall functional expression pattern of G protein-coupled receptors differed from that in human erythroleukaemia cell lines or from that in platelets. Primary culture systems for nontransformed cells, such as the one presented here, thus will be indispensable for the study of the functional role of G protein-dependent signalling during haematopoiesis.     

Functional analysis of the deficit in semantic context processes in schizophrenic patients: an event-related potentials study.

AIM: Schizophrenic patients exhibit a deficit in the semantic context processing strategies which might be responsible for the language and communication disorders that are characteristic of this condition. The aim of our study was to identify the nature of the contextualization processes which are lacking in schizophrenic patients, by distinguishing between processes for the generation of expectations and processes of semantic integration. PATIENTS AND METHOD: Thirteen schizophrenic patients and 12 healthy controls performed two tasks: (a) a lexical decision task (LDT) with a highly structured sentence context and whose experimental characteristics made it possible to call strongly on predictive strategies, and (b) a LDT with classic semantic priming (the context being reduced to a single word). In this latter task, the small number of related words did not prompt the generation of expectations but instead called on the postlexical integration process. The event-related potentials (ERP) were recorded during the administration of the task. RESULTS AND CONCLUSION: In the sentence task, we observed a modulation in the N400 amplitude due to the presence of expectations both in the schizophrenic and control participants: predictable words evoked a small N400 amplitude compared to the non-predictable words. In contrast, in the simple (priming) task, the semantic link evoked an N400 amplitude modulation in the control group exclusively. Our results indicate that schizophrenics could be able to use context to activate expectations for the most highly predictable item, and that their deficit appears when the processing strategy is based on the integration of the context stored in working memory.     

New lanthanum (III) complex--synthesis, characterization, and cytotoxic activity

The complex of lanthanum (III) was synthesized reacting the respective inorganic salt with 5-aminoorotic acid in amounts equal to the metal:ligand molar ratio of 1:3. The complex was prepared by adding an aqueous solution of lanthanum (III) nitrate to an aqueous solution of the ligand, subsequently raising the pH of the mixture gradually to approx. 5.0 through addition of a dilute solution of sodium hydroxide. The structure of the final complex was determined by means of spectral data (IR, Raman,( 1)H-NMR) and elemental analysis. Significant differences in the IR spectrum of the complex were observed as compared to the spectrum of the ligand. A comparative analysis of the Raman spectrum of the complex with that of the free 5-aminoorotic acid allowed a straightforward assignment of the vibrations of the ligand groups involved in coordination. The ligand and the complex were tested for the cytotoxic activities on the chronic myeloid leukemia derived K-562, overexpressing the BCR-ABL fusion protein and the non-Hodgkin lymphoma derived DOHH-2, characterized by a re-expression of the anti-apoptotic protein bcl-2 cell lines. The results obtained indicate that the tested compounds exerted a considerable cytotoxic activity upon the evaluated cell lines in a concentration-dependent matter, which enabled the construction of dose-response curves and the calculation of the corresponding IC(50 )values. The inorganic salt exerted a very weak cytotoxic effect on these cells, which is in contrast to the lanthanum (III) complex.