Frequency of molecular alterations in heterozygous beta-thalassemia in southern Spain and their relation to the hematologic phenotype

INTRODUCTION: Heterozygous beta-thalassemia manifests hematologically with microcytosis, reduced red blood cell hemoglobin concentration and high hemoglobin A2 levels. Almost all molecular alterations are due to point mutations. We attempt to determinate the frequency of that mutations in the Oriental Andalusia Area, and its relationship with the hematological phenotype. PATIENTS AND METHODS: We have studied 45 heterozygous patients. DNA samples were amplified by PCR, using the printers CD7 and HI1. A 16 Kb fragment corresponding to beta globin gene was obtained and analyzed by Dot Blot assay and hybridized with allelic specific oligonucleotide (ASO) probes to detect the 6 more frequent mutations found in the South of Spain. RESULTS: Codon 39 nonsense mutation (31.1%) was the most frequent finding followed by IVS-1 NT 110 (26.7%). The relationship between hematological parameters and molecular mutations concluded that IVS-I NT 6 mutation developed a minimal anemia. DISCUSSION: From the practical point of view, this study indicates that we were able to detect more than 90% of heterozygous beta-tal. with 5 out of 6 ASO probes used in this work. Thus, our data also provides a further implication in prenatal diagnosis.     

Diagnostic value of the study of caffeine elimination in chronic liver diseases

Data from the past few years have shown that as caffeine metabolizes solely in the liver, caffeine elimination can serve as a liver function test. We have collected data by monitoring 40 persons with liver diseases (11 chronic alcoholic hepatitis, 24 liver cirrhosis, 5 non-cirrhotic liver disease). Eight subjects served as controls. The patients with liver cirrhosis were classified according to the Child--Pugh scoring system. To determine caffeine elimination blood samples were collected before and at 3, 6, 9 and 12 hours after oral administration of 0.2 g caffeine. Fasting serum caffeine concentration and concentration 12 hours after administration, serum clearance, half life, peak concentration and volume of distribution have been compared. The respective values measured in patients with non-cirrhotic liver diseases did not differ significantly from the controls. The disappearance of caffeine was significantly decreased in cirrhotics. Our results demonstrated a good correlation between impairment of caffeine elimination and assessment of severity of liver disease by the Child--Pugh classification. Measuring serum levels in samples taken 12 hours after caffeine administration is a simple and useful method in the diagnosis of liver diseases at cirrhotic stage.     

Decision by the Principle Board of the Polish Allergy Society

A review of isolates of Neisseria meningitidis and other laboratory evidence of meningococcal infection was carried out for the period 1990-1995. Thirty-three patients with evidence of meningococcal disease were identified over the six year period. Group B organisms were the most commonly identified, but an increase in Group C has occurred and is almost equal in number. Data from clinical, laboratory and public health sources should be centralized in a National Surveillance Centre.     

Patient characteristics, MRI examination, and dopaminergic drug response in clinical possible Parkinson''s disease

As hypersensitivity to natural rubber latex (NRL) has become an increasingly recognized problem in children, identification of all groups at risk seems important. In this study hypersensitivity to NRL was evaluated in 337 children with potential risk factors. We identified by questionnaire children's underlying diseases, history of surgical procedures, evidence of atopy and patient's history of NRL-specific reactions. Hypersensitivity to NRL and other allergens relevant in the Düsseldorf area was evaluated by skin prick test and specific IgE. In 9.2% of all children hypersensitivity to NRL was observed. Significant risk factors for hypersensitivity to NRL were, among the underlying diseases, spina bifida (odds ratio 29.2), hydrocephalus internus (10.1), gastrointestinal malformation (5.2) and atopy (2.2). Surgical procedures with significant risk were the implantation of a ventriculo-peritoneal shunt (15.7) and surgery of the gastrointestinal tract (3.1). Frequency of surgical procedures correlated (p < 0.001) with risk of hypersensitivity. Frequent surgery and atopy were found to have an additional effect on the risk of hypersensitivity. Information about previous NRL-specific reactions obtained by questionnaire was of little predictive value when performing multivariate analysis. For children at high risk for hypersensitivity to NRL preoperative evaluation and, in case of hypersensitivity, preventive measures seem to be advised.     

Deformation evolution during initiation of transgranular stress corrosion cracking

Face centered cubic metals and alloys have multiple slip systems and are characterized by high dislocation velocities. Nevertheless, these materials suffer from transgranular stress corrosion cracking (T-SCC), that occurs by environmentally-induced cleavage. Since plasticity precedes fracture in all T-SCC phenomena, the evolution of deformation patterning during T-SCC is an important element of the local microfracture mode. Experimental observations show that the presence of the SCC-causing environment during straining is promoting localized plastic deformation at the near-surface region and producing an entirely different deformation pattern compared with that developing in laboratory air. The deformation evolving in the presence of the SCC electrolyte is highly localized, exhibiting closely spaced, coarse slip bands. The amount of localized strain developing at the near-surface region prior to nucleation of stress corrosion cracks is equivalent to the strain required for ductile fracture of the material in air, suggesting the existence of a fundamental fracture criterion. The above phenomenology of the deformation evolution is considered in relation to T-SCC initiation and propagation. The T-SCC is suggested to be a macroscopically brittle but microscopically ductile fracture occurring by localized plastic flow. An environment-induced deformation localization mechanism is described where the role of the environment involves generation of vacancies and subsequent dislocation nucleation from the near-surface region at loads well below those required for normal yielding. The evolution of the localized deformation pattern during T-SCC is suggested to be an outcome of nonuniformity and periodicity in the dissolution process.Presented at Fourth Greek National Congress on Mechanics, 26–29 June 1995, held at Xanthi, Greece.     

A high-speed gateable image pipeline

We present the performance of a high-speed gateable vacuum image pipeline, which permits individual images to be delayed and selected from continuous non-repetitive image stream. This device is composed of a vacuum tube equipped with a photocathode at one end, a phosphor screen at the other end, and a system of metal grids in between. Photoelectrons produced by the images focused on the photocathode, are guided by a uniform magnetic field, parallel to the tube axis. By changing the grid potentials, the drift time of the photoelectrons inside the tube can be varied from 0.35 to 1.5 μs. An image can then be selected by an external trigger with a time resolution in the range of 4–30 ns, depending on the delay time. The selected photoelectrons are finally accelerated onto the phosphor screen, set at 10 kV, where they reproduce the desired image. With a magnetic field of 0.1 T, a spatial resolution of 33 lp/mm was obtained. The high spatial and time resolution make this device an interesting tool for high-energy physics and astrophysics experiments, and for high-speed photography.     

锰铜基高阻尼合金中锌量的测定──硫氰酸盐萃取分离络合滴定法

基于甲基异丁基甲酮于稀盐酸介质中定量地萃取Ｚｎ￣（２＋）与ＣＮＳ￣－形成的络阴离子。从而达到与共存的锰、镍、铝、铬的完全分离。在有氟化物、硫脲存在时Ｆｅ￣（３＋）、Ｃｎ￣（２＋）和Ａｇ￣＋也不被萃取。有机相中的锌于ＰＨ５．５“六胺”缓冲介质中返萃取回水相，用ＥＤＴＡ滴定。在文中给定的条件下锌的一次被萃取率可达９９％以上，成功地解决了锰铜基高阻尼合金中共存离子对锌量测定的干扰问题。     

The morphological stability of lateral growth in solid-solid phase transformation during thin-film interdiffusion in Al/Cu bimetal films

This article describes the phenomenon of morphological instability in solid-solid phase transformations during thin-film interdiffusion, specifically related to the initial stages of precipitation when phase growth occurs along the interface between thin films. The experimental observations that revealed this effect will be presented, and a working hypothesis will be discussed. Experimental observations suggest that the ledge mechanism of growth is present in this system but does not inhibit the formation of interfacial instabilities. It is proposed that morphological stability for solid-phase growth occurring during thin-film interdiffusion can be treated by the inclusion of a solute-source term into the two-dimensional perturbation approach generally used to study unstable growth morphologies. Experimental observations that provide qualitative and semiquantitative support for the solute-source model are also presented.