Prenatal diagnosis of GM2-gangliosidosis B1 variant

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM₂-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM₂-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM₂-gangliosidosis (0 variant) was compared.     

Fetal urinary insulin-like growth factor I and binding protein 3 in bilateral obstructive uropathies

Fetal urinary concentrations of insulin-like growth factor I (UIGF-I) and binding protein 3 (UIGFBP-3) were determined in patients with prenatal diagnosis of bilateral obstructive uropathy. Patients were retrospectively assigned to three groups, on the basis of outcome: group 1, termination of pregnancies (n = 11) with sonographic evidence of severe oligohydramnios or renal dysplasia, confirmed at histological examination; group 2, patients (n = 10) with postnatal plasma creatinine > 50 μmol/1 at the age of 1 year (1 yr-pCreat); and group 3, patients (n = 16) with 1 yr-pCreat ≤ μmol/1. The results show a significant increase in UIGF-I and UIGFBP-3 in groups 1 (18 159 ± 9083 pg/ml; 2657 ± 669 ng/ml) and 2 (1574 ± 847 pg/ml; 176 ± 50 ng/ml) in comparison with group 3 (35 ± 6 pg/ml; 21 ± 2 ng/ml). UIGF-I and UIGFBP-3 were significantly correlated with postnatal plasma creatinine, and were both sensitive (90 per cent; 80 per cent) and specific (88 per cent; 88 per cent) for prediction of elevated 1 yr-pCreat (>50 μmol/1). Fetal urinary IGF-I and IGFBP-3 are increased in severe fetal bilateral obstructive uropathy, possibly reflecting tubular dysfunction or/and increased synthesis consequent upon fetal kidney injury. Their predictive value for postnatal renal function needs further assessment.     

The modern theory of biological evolution: an expanded synthesis

In 1858, two naturalists, Charles Darwin and Alfred Russel Wallace, independently proposed natural selection as the basic mechanism responsible for the origin of new phenotypic variants and, ultimately, new species. A large body of evidence for this hypothesis was published in Darwins Origin of Species one year later, the appearance of which provoked other leading scientists like August Weismann to adopt and amplify Darwins perspective. Weismanns neo-Darwinian theory of evolution was further elaborated, most notably in a series of books by Theodosius Dobzhansky, Ernst Mayr, Julian Huxley and others. In this article we first summarize the history of life on Earth and provide recent evidence demonstrating that Darwins dilemma (the apparent missing Precambrian record of life) has been resolved. Next, the historical development and structure of the modern synthesis is described within the context of the following topics: paleobiology and rates of evolution, mass extinctions and species selection, macroevolution and punctuated equilibrium, sexual reproduction and recombination, sexual selection and altruism, endosymbiosis and eukaryotic cell evolution, evolutionary developmental biology, phenotypic plasticity, epigenetic inheritance and molecular evolution, experimental bacterial evolution, and computer simulations (in silico evolution of digital organisms). In addition, we discuss the expansion of the modern synthesis, embracing all branches of scientific disciplines. It is concluded that the basic tenets of the synthetic theory have survived, but in modified form. These sub-theories require continued elaboration, particularly in light of molecular biology, to answer open-ended questions concerning the mechanisms of evolution in all five kingdoms of life.Dedicated to Prof. Dr. Dr. hc mult. Ernst Mayr on the occasion of his 100th birthdayThis revised version was published online in March 2004, with corrections to the caption of Figure 6.     

Forensic entomology

Necrophagous insects are important in the decomposition of cadavers. The close association between insects and corpses and the use of insects in medicocriminal investigations is the subject of forensic entomology. The present paper reviews the historical background of this discipline, important postmortem processes, and discusses the scientific basis underlying attempts to determine the time interval since death. Using medical techniques, such as the measurement of body temperature or analysing livor and rigor mortis, time since death can only be accurately measured for the first two or three days after death. In contrast, by calculating the age of immature insect stages feeding on a corpse and analysing the necrophagous species present, postmortem intervals from the first day to several weeks can be estimated. These entomological methods may be hampered by difficulties associated with species identification, but modern DNA techniques are contributing to the rapid and authoritative identification of necrophagous insects. Other uses of entomological data include the toxicological examination of necrophagous larvae from a corpse to identify and estimate drugs and toxicants ingested by the person when alive and the proof of possible postmortem manipulations. Forensic entomology may even help in investigations dealing with people who are alive but in need of care, by revealing information about cases of neglect.     

Investigation on the changes effected by tool profile on mechanical and tribological properties of friction stir processed AZ31B magnesium alloy

The present study investigates the effect of tool shoulder profile on the mechanical and tribological properties of friction stir processed AZ31B magnesium alloy. The tool rotational speed and feed rate are the chosen process parameters. The experiments were conducted with 3 level 2 factors full factorial design. The recorded responses were tensile strength, wear losses and corrosion rate. The results were analyzed with the help microstructures of the processed samples. The study reveals that, for concave shoulder tool, the strain hardening effect was playing a major role in determining the properties of the processed materials and for the step shoulder tool, the grain size plays a major role in determining the properties of the processed materials.     

A graphical representation of carbon footprint reduction for chemical processes

Climate change has recently become a major focus for industry and government agencies. Some recent works have been reported on the use of pinch analysis techniques for carbon-constrained energy planning problems. This paper discusses a new application of graphical technique based on pinch analysis for company-level visualization and analysis of carbon footprint improvement. The technique is based on the decomposition of total carbon footprint into material- and energy-based components, or alternatively, into internal and external components. The decomposition facilitates the evaluation and screening of process improvement alternatives. Two industrial case studies on the production of phytochemical extracts and bulk chemicals are used to illustrate the new extension.