Where to look for the genes related to diaphragmatic hernia?

Analysis of approximately 150 published observations of diaphragmatic hernia (DH) in persons with structural autosomal imbalance showed several segments where DH-related genes may be found. Occurrence of DH in several patients with deletions 15q26, 8p23, 8q22, 4p16, 1q42, and 3q22 allows to propose that these segments harbor the genes which, when deleted (or truncated) may be responsible for DH. Segments 22q11, 4q28.3q32, 1q25q31.2 and 2p23p25 are good candidates for the location of genes which cause DH in trisomic condition. The genetic mechanisms of DH in tetrasomy 12p are not clear, although more than 50 cases of DH have been reported in this syndrome. Frequent coexistence of congenital heart defects and DH in some syndromes (and rarity of this association in some others) may suggest the different pathways of the DH's origin.     

LC-MS/MS in the Clinical Laboratory – Where to From Here?

Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has seen enormous growth in clinical laboratories during the last 10-15 years. It offers analytical specificity superior to that of immunoassays or conventional high performance/pressure liquid chromatography (HPLC) for low molecular weight analytes and has higher throughput than gas chromatography-mass spectrometry (GC-MS). Drug/Toxicology and Biochemical Genetics/Newborn Screening laboratories were at the vanguard of clinical LC-MS/MS use, but have been eclipsed by Endocrine laboratories. In USA reference/referral laboratories, most steroids and biogenic amines are now assayed by LC-MS/MS, and the technology has started to penetrate into smaller laboratories. Assays for mineralo- and gluco-corticoids and their precursors, sex steroids, metanephrines and 25-hydroxy vitamin D highlight the advantages of LC-MS/MS.However, several limitations of LC-MS/MS have become apparent, centring on the interacting triangle of sensitivity - specificity - throughput. While sample throughput is higher than for conventional HPLC or GC-MS, it lags behind automated immunoassays. Techniques which improve throughput include direct sample injection, LC-multiplexing and samplemultiplexing. Measures to improve specificity and sensitivity include sample clean-up and optimising chromatography to avoid interferences and ion suppression due to sample-matrix components. Next generation instrumentation may offer additional benefits.The next challenge for clinical LC-MS/MS is peptide/protein analysis. The quest for multi-biomarker profiles for various diseases has largely failed, but targeted peptide and protein testing by LC-MS/MS, directed at analytical and clinical questions that need to be answered, is proving highly successful. We anticipate that this will result in similar growth of clinical protein/peptide LC-MS/MS as has been seen for low molecular weight applications.     

Species Survival in Fragmented Landscapes: Where to From Here?

We summarise the contributions of empiricists, modellers, and practitioners in this issue of Biodiversity and Conservation, and highlight the most important areas for future research on species survival in fragmented landscapes. Under the theme uncertainty in research and management, we highlight five areas for future research. First, we know little about the effects of density dependence on the viability of metapopulations, a requirement for fragmented landscapes. Second, successful early attempts suggest that it is worth developing more rigorous calibration methods for population viability analysis with spatially explicit, individual-based models. In particular, the balance between model complexity, ease of calibration, and precision, needs to be addressed. Third, we need to improve methods to discriminate between models, including alternatives to time-series approaches. Fourth, when our ability to reduce model uncertainty is weak, we need to incorporate this uncertainty in population viability analysis. Fifth, population viability analysis and decision analysis can be integrated to make uncertainty an explicit part of the decision process. An important future direction is extending the decision framework to adaptive management. Under the theme tools for quantifying risk and predicting species sensitivity to fragmentation, we highlight three areas for future research. First, we need to develop tools to support comparative approaches to population viability analysis. Second, population modelling can be used to find rules of thumb to support conservation decisions when very little is known about a species. Rules of thumb need to be extended to the problem of managing for multiple species. Third, species traits might be useful for predicting sensitivity but predictions could be further refined by considering the relative importance of population processes at different scales. Under the theme tools for reassembling fragmented landscapes, we consider the focal species approach, and highlight aspects of the approach that require more rigorous testing. Finally, we highlight two important areas for future research not presented in the previous themes or papers in this volume. First, we need to incorporate the deterministic effects of habitat modification into the modelling framework of population viability analysis. Second, an avenue of research that remains largely unexplored is the combination of landscape-scale experiments and population modelling, especially using data from existing fragmentation experiments and from experiments designed to test the effects of defragmenting landscapes.     

Where in the world do bacteria experience oxidative stress?

Reactive oxygen species – superoxide, hydrogen peroxide and hydroxyl radicals – have long been suspected of constraining bacterial growth in important microbial habitats and indeed of shaping microbial communities. Over recent decades, studies of paradigmatic organisms such as Escherichia coli, Salmonella typhimurium, Bacillus subtilis and Saccharomyces cerevisiae have pinpointed the biomolecules that oxidants can damage and the strategies by which microbes minimize their injuries. What is lacking is a good sense of the circumstances under which oxidative stress actually occurs. In this MiniReview several potential natural sources of oxidative stress are considered: endogenous ROS formation, chemical oxidation of reduced species at oxic–anoxic interfaces, H₂O₂ production by lactic acid bacteria, the oxidative burst of phagocytes and the redox-cycling of secreted small molecules. While all of these phenomena can be reproduced and verified in the lab, the actual quantification of stress in natural habitats remains lacking – and, therefore, we have a fundamental hole in our understanding of the role that oxidative stress actually plays in the biosphere.     

Where do all the proteins go?

The subcellular localization of a protein can be very informative in identifying its function and in understanding the regulatory mechanisms by which it is controlled. Past efforts to define protein localization have typically entailed methods of immunological and fluorescence-based detection applied to a limited number of gene products. Several current studies are shifting this paradigm – utilizing traditional and novel approaches in molecular biology, proteomics, histochemistry and bioinformatics to define protein localization on a proteome-wide scale. Selected studies highlighting each of these approaches are presented here as an overview of the diverse avenues by which protein localization may be investigated for the identification of new drug targets.     

Is beauty in the eye of the beholder?

Theories of beauty were evaluated by requiring subjects to “evolve” a beautiful female face using a Genetic Algorithm. In this procedure, a computer program generated a small population of faces (first generation of phenotypes) from a set of random binary strings (genotypes). Genotypes specified the shapes and soft tissue anthropometrics of facial features. Each of the first generation of faces was rated by a subject (relative fitness measure) for beauty. The fittest genotypes then bred in proportion to their fitness, with crossover and mutation of the binary strings, to produce offspring which were again rated by the subject. This process continued until the most beautiful face, for that subject, was evolved. Forty Caucasian subjects (20 M, 20 F) were required to evolve their idealized beautiful female face using this procedure. The features and soft tissue anthropometrics of their final composites were compared to population norms. Also, the final composites, and different faces generated from the same data base, were rated for beauty by independent judges. The results support the conclusion that the concept of facial beauty is the result of sexual selection, and a beautiful female face has features and proportions indicative on high fertility.     

The ratio between the phasic and tonic components of the frontal midline Θ rhythm in the attention test

The frontal midline Θ rhythm in the GO/NOGO paradigm was studied in a group of apparently healthy children at ages of 7–13 years. Calculated event-related synchronization in response to stimulus presentation in tests was used as an index of the phasic component, and the relative change in the EEG power in the Θ band (compared to the activity in the state of quiet wakefulness) in response to test performance was used as an index of the tonic component. Subjects were divided into two groups according to the characteristics of the baseline Θ activity. A statistically significant correlation between the phasic and tonic components of the Θ rhythm was found in the group of children characterized by the absence of the frontal midline Θ rhythm in the baseline EEG. No such correlation was found in the group of children characterized by a pronounced baseline Θ rhythm. The results testify to the functional heterogeneity of the phasic and tonic components of the human midline Θ rhythm.     

From A to Z and back? Multicompartment proteins in the sarcomere

Sarcomeres, the smallest contractile units of striated muscle, are conventionally perceived as the most regular macromolecular assemblies in biology, with precisely assigned localizations for their constituent proteins. However, recent studies have revealed complex multiple locations for several sarcomere proteins within the sarcomere and other cellular compartments such as the nucleus. Several of these proteins appear to relocalize in response to mechanical stimuli. Here, we review the emerging role of these protein networks as dynamic information switchboards that communicate between the contractile machinery and the nucleus to central pathways controlling cell survival, protein breakdown, gene expression and extracellular signaling.     

Where in Europe should we look for sources of the cutaneous trematode Collyriclum faba infections in migrating birds?

Cutaneous cysts with trematodes of Collyriclum faba have been found in birds during their spring and post-breeding migrations in the Czech Republic. During spring migrations, C. faba was found in one dunnock Prunella modularis, two European robins Erithacus rubecula, three common nightingales Luscinia megarhynchos, one song thrush Turdus philomelos and one great reed warbler Acrocephalus arundinaceus. During post-breeding migration, the same parasite was found in one garden warbler Sylvia borin, one whitehroat S. communis, three goldcrests Regulus regulus and one Eurasian treecreeper Certhia familiaris. The newly identified hosts of C. faba are dunnock, common nightingale, song thrush, great reed warbler and Eurasian treecreeper. Geographical areas of the birds' infection were identified from an analysis of reports on ringed birds of the same species, the time necessary for the development of cutaneous cysts with C. faba and the time of their survival, and hitherto known geographical areas of endemic occurrence of C. faba. It is presumed that birds trapped during spring migrations were infected in some montane and submontane regions in south-western Europe (the Alps, the Apennines). Birds infected during autumn migration or post-breeding vagrancy could have been infected in the Central European Carpathians, the region of C. faba endemic occurrence. For migrating birds, the impact of C. faba infections has not been hitherto assessed.     

What to do in marine biotechnology?

During the symposium "Marine Biotechnology: Basics and Applications", held 25 February-1 March, 2003 in Matalasca?as, Spain, a special brainstorm session was organized. Two questions were addressed: 1, "What is the most desirable development in marine biotechnology"?; 2, "What is the most spectacular development in this field in your 'wildest' dreams"? The outcome of this session is reported in this paper. From the more than 250 ideas generated, concern for the environment and human health emerged as the most significant issues.     

Evolution of social behaviour in the primitively eusocial wasp Ropalidia marginata: do we need to look beyond kin selection?

Ropalidia marginata is a primitively eusocial wasp widely distributed in peninsular India. Although solitary females found a small proportion of nests, the vast majority of new nests are founded by small groups of females. In such multiple foundress nests, a single dominant female functions as the queen and lays eggs, while the rest function as sterile workers and care for the queen''s brood. Previous attempts to understand the evolution of social behaviour and altruism in this species have employed inclusive fitness theory (kin selection) as a guiding framework. Although inclusive fitness theory is quite successful in explaining the high propensity of the wasps to found nests in groups, several features of their social organization suggest that forces other than kin selection may also have played a significant role in the evolution of this species. These features include lowering of genetic relatedness owing to polyandry and serial polygyny, nest foundation by unrelated individuals, acceptance of young non-nest-mates, a combination of well-developed nest-mate recognition and lack of intra-colony kin recognition, a combination of meek and docile queens and a decentralized self-organized work force, long reproductive queues with cryptic heir designates and conflict-free queen succession, all resulting in extreme intra-colony cooperation and inter-colony conflict.