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Evolution of recruitment at different frequencies during the development of endolymphatic hydrops in the guinea pig.

The study of human temporal bones has identified endolymphatic hydrops as a common feature of several diseases. In particular it is systematically found in those bones removed from patients with premortem Menière's disease. Menière's disease is known to induce sensorineural pathology with recruitment, which changes with the evolution of the hearing loss, and is suspected to induce a cochlear conductive loss by a possible increase in static pressure of endolymph. Amplitude/intensity functions of sensorineural responses can reflect recruitment and/or conduction loss. Experimentally induced hydrops in animals provokes cochlear physiological alterations, some of which closely resemble certain features of Menière's disease. In the present study using a guinea-pig animal model, we have examined amplitude/intensity functions at the round window for cochlear microphonics (RWCM), summating potentials (RWSP) and action potentials (CAP) at different stages of hearing loss in experimentally induced hydrops. During the period of fluctuating thresholds there was reduction of maximal RWCM amplitude, no change in RWSP and recruitment on the CAP. At a later stage when the audiogram was flat and fluctuations were no longer seen, RWCM remained unchanged. At this time RWSP could show recruitment while CAP amplitudes at all intensities were reduced, indicating either a cochlear conductive loss and/or a general depression of neural activity.

Animals↗

Dynamic systems and inferential information processing in human communication.

Research in human communication on an ethological basis is almost obsolete. The reasons for this are manifold and lie partially in methodological problems connected to the observation and description of behavior, as well as the nature of human behavior itself. In this chapter, we present a new, non-intrusive, technical approach to the analysis of human non-verbal behavior, which could help to solve the problem of categorization that plagues the traditional approaches. We utilize evolutionary theory to propose a new theory-driven methodological approach to the 'multi-unit multi-channel modulation' problem of human nonverbal communication. Within this concept, communication is seen as context-dependent (the meaning of a signal is adapted to the situation), as a multi-channel and a multi-unit process (a string of many events interrelated in 'communicative' space and time), and as related to the function it serves. Such an approach can be utilized to successfully bridge the gap between evolutionary psychological research, which focuses on social cognition adaptations, and human ethology, which describes every day behavior in an objective, systematic way.

Biological Evolution↗

Polycythaemia vera in young people: an analysis of 58 cases diagnosed before 40 years.

Over 20 years, 58 cases of PV in young people (46 meeting the full PVSG criteria, 12 with elevated red cell volume and leucocytosis or thrombocytosis, without splenomegaly) were studied and have been followed for periods of 3-24 years. These cases represent approximately 5% of the cases of PV referred to the Department of Nuclear Medicine of St Louis Hospital during this period. They differ from older patients in the initial clinical severity, the short interval between the first symptoms and the diagnosis, frequent presentation with a life-threatening complication (two cases of hepatic vein thrombosis, six thrombotic or haemorrhagic events, six splenectomies, two abortions) and a very enlarged spleen in half the cases. However, after the initial complications, the overall survival is very long (exceeding 70%, even when including the initial complications, at 15 years). The vascular accidents occur exclusively in the phlebotomized patients, the main risk factor being the poor stability of the haematocrit. Only one acute leukaemia was observed among the 14 cases treated by radioactive phosphorus and/or alkylating chemotherapy. The most frequent late complication was evolution towards myelofibrosis. This spent phase seemed to occur earlier in patients treated by phlebotomy. On the basis of this data, we would advise the following therapeutic strategy: phlebotomies, as soon as the diagnosis is established, and a systematic long-term treatment by hydroxyurea with the hope of reducing the number of vascular complications and of delaying the evolution towards the spent phase and the myelofibrosis.

Adult↗

Variation in coding (NADH dehydrogenase subunits 2, 3, and 6) and noncoding intergenic spacer regions of the mitochondrial genome in Octocorallia (Cnidaria: Anthozoa).

Low rates of evolution in cnidarian mitochondrial genes such as COI and 16S rDNA have hindered molecular systematic studies in this important invertebrate group. We sequenced fragments of 3 mitochondrial protein-coding genes (NADH dehydrogenase subunits ND2, ND3 and ND6) as well as the COI-COII intergenic spacer, the longest noncoding region found in the octocoral mitochondrial genome, to determine if any of these regions contain levels of variation sufficient for reconstruction of phylogenetic relationships among genera of the anthozoan subclass Octocorallia. Within and between the soft coral families Alcyoniidae and Xeniidae, sequence divergence in the genes ND2 (539 bp), ND3 (102 bp), and ND6 (444 bp) ranged from 0.5% to 12%, with the greatest pairwise distances between the 2 families. The COI-COII intergenic spacer varied in length from 106 to 122 bp, and pairwise sequence divergence values ranged from 0% to 20.4%. Phylogenetic trees constructed using each region separately were poorly resolved. Better phylogenetic resolution was obtained in a combined analysis using all 3 protein-coding regions (1085 bp total). Although relationships among some pairs of species and genera were well supported in the combined analysis, the base of the alcyoniid family tree remained an unresolved polytomy. We conclude that variation in the NADH subunit coding regions is adequate to resolve phylogenetic relationships among families and some genera of Octocorallia, but insufficient for most species - or population-level studies. Although the COI-COII intergenic spacer exhibits greater variability than the protein-coding regions and may contain useful species-specific markers, its short length limits its phylogenetic utility.

Animals↗

TAPI polymorphisms in several human ethnic groups: characteristics, evolution, and genotyping strategies.

Genetic variations in the locus encoding the transporter associated with antigen processing, subunit 1 (TAP1), were systematically studied using samples from Caucasians, Africans, Brazilians, and compared with data from chimpanzees. PCR-amplified genomic sequences corresponding to the 11 exons were analyzed by single-strand conformation polymorphism (SSCP) and sequencing. Six nonsynonymous and 2 synonymous single nucleotide polymorphisms (SNPs) were found to be common in one ethnic group or another, and they involved codons 254 (Gly-GGC/Gly-GGT) in exon 3, 333 (Ile-ATC/Val-GTC) in exon 4, 370 (Ala-GCT/Val-GTT) in exon 5, 458 (Val-GTG/Leu-TTG) in exon 6, 518 (Val-GTC/Ile-ATC) in exon 7, 637 (Asp-GAC/Gly-GGC), 648 (Arg-CGA/Gln-CAA) and 661 (Pro-CCG/Pro-CCA) in exon 10. At each SNP site the sequence listed first was predominant in all ethnic groups. Several SNPs segregated on the same chromosome regardless of populations and species. Together, the SNPs produced 5 major human TAP1 alleles, 4 of which matched the officially recognized alleles *0101, *02011, *0301, and *0401; the 5th allele differed from each of those by at least 4 SNPs. Overall, TAP1*0101 was the predominant allele in all ethnic groups, with frequencies ranging from 0.667 in Zambians to 0.808 in US Caucasians. The TAP1*0401 frequency showed the greatest difference between Africans (0.221-0.254) and Caucasians (0.033), with Brazilians (0.058) fitting in the middle. Consistent with earlier work based on Caucasians and gorillas, *0101 appeared to be the newest human TAP1 allele, suggesting a dramatic spread of *0101 into all human populations examined. Characterization of TAP1 polymorphisms allowed the design of a PCR-based genotyping scheme that targeted 7 SNP sites and required 2 separate genotyping techniques.

ATP Binding Cassette Transporter, Subfamily B, Mem↗

[Systematic value of the larval structure and details of postlarval morphogenesis in Bryozoa gymnolaemates].

Among the various species of Bryozoa Gymnolaemata, the larvae and their development were studied, comparing the larval structure and the evolution of their cellular categories during the post-larval morphogenesis the existence of nine well-defined larval types could be revealed. Cases of insufficiently described larvae are discussed. The present systematic of Bryozoa Gymnolaemata is compared with the classification of various larval types. For the major part of cases, each systematic family is marked by a precise type of larva; however there are some exceptions, especially in the ordre Ctenostomata. These discordances may suggest some rearrangements of the classification utilized at the present time.

Animals↗

Evolution of the Hall coefficient and the peculiar electronic structure of the cuprate superconductors.

Although the Hall coefficient R(H) is an informative transport property of metals and semiconductors, its meaning in the cuprate superconductors has been ambiguous because of its unusual characteristics. Here we show that a systematic study of R(H) in La2-xSrxCuO4 single crystals over a wide doping range establishes a qualitative understanding of its peculiar evolution, which turns out to reflect a two-component nature of the electronic structure caused by an unusual development of the Fermi surface recently uncovered by photoemission experiments.

Journal Article↗

Genetic redundancy in evolving populations of simulated robots.

A number of authors have argued that redundancy in biological organisms contributes to their evolvability. We investigate this hypothesis via the experimental manipulation of genetic redundancy in evolving populations of simulated robots controlled by artificial neural networks. A genetic algorithm is used to simulate the evolution of robots with the ability to perform a previously studied task. Redundancy is measured using systematic lesioning. In our experiments, populations of robots with larger genotypes achieve systematically higher fitness than populations whose genotypes are smaller. It is shown that, in principle, robots with smaller genotypes have enough computational power to achieve optimal fitness. Populations with larger (redundant) genotypes appear, however, to be more evolvable and display significantly higher diversity. It is argued that this enhanced evolvability is a direct effect of genetic redundancy, which allows populations of redundant robots to explore neutral networks spanning large areas of genotype space. We conjecture that, where cost considerations allow, redundancy in functional or potentially functional components of the genome may make a valuable contribution to evolution in artificial and perhaps in biological systems. The methods described in the article provide a practical way of testing this hypothesis for the artificial case.

Models, Genetic↗

Mouse annexin III cDNA, genetic mapping and evolution.

Mouse annexin III cDNA was characterized from I.M.A.G.E. Consortium (LLNL) expressed sequence tag clones by molecular sequencing, chromosomal mapping and systematic analysis. cDNA sequences extended the known 5' and 3' untranslated regions and confirmed the location of intron 7 with respect to the human gene. The Anx3 locus mapped to the middle of mouse chromosome 5 between Areg and Fgf5. Protein-coding regions were compared with homologous annexins to establish subfamily identity, structural conservation and divergence pattern. Annexin III exhibited low functional constraint against structural change and weak phylogenetic association with known annexins. The rapid, constant divergence of human and rodent annexins III from each other and from other annexin subfamilies was used to estimate gene separation times. Phylogenetic, phenetic and structural data suggested a possible direct or indirect separation of annexin III from XI approximately 317 million years ago.

Amino Acid Sequence↗

Selection of very small differences in bacterial evolution.

As the Science of Biology is constantly changing due to new discoveries and advanced techniques it is essential that a systematic study of the environmental causes of natural selection on microorganisms be conducted. Very small phenotypic differences among individuals within bacterial populations arise as a result of spontaneous genetic variation, but the evolutionary importance of these small changes is frequently considered to be non-significant. Recent in vitro experiments indicate that efficient selection of these very small differences may take place in environmental compartments where a particular intensity of the selective agent is exerted. Model studies based on competition between bacterial populations only differing in one or two amino acid changes of a detoxifying antibiotic enzyme (e.g. beta-lactamase) have shown that at a narrow range of antibiotic concentrations the variant population is strongly selected over the original type, despite the extremely low phenotypic differences in antibiotic susceptibility. These selective concentrations are expected to occur in precise environmental compartments (selective compartments). Due to the high frequency of structured habitats in natural environments, the intensity of selective agents is commonly exerted along certain gradients. Each one of the points forming these gradients (or intersection among gradients) may have a particular selective ability for a specific genetic variant. Considering the environment as a composition of an extremely high number of specific selective compartments may help to understand the existence of high levels of genetic variability in natural bacterial populations. This may be one of the clues towards the unraveling of bacterial evolution.

Bacteria↗

The evolution of noncoding DNA: how much junk, how much func?

Comparative sequence analysis on a genomic scale has opened the door for the systematic analysis of cis-acting regulatory DNA. It is now possible to begin to answer basic questions such as, how much meaningful noncoding sequence is in the genome? How strong is natural selection on functional noncoding sequences in different species? Two recent articles have capitalized on the comparative genomic approach in an attempt to answer these questions with surprising results.

DNA, Intergenic↗

Constraints on masticatory system evolution in anthropoid primates.

It is well established that some observed patterns of force production in the primate masticatory system match those predicted by a simplified lever model. This model is also commonly invoked in adaptive explanations of craniodental diversity. However, systematic studies of the predictive power of this model are missing, leaving open the possibility that factors not traditionally included in the model alter the function and evolution of the masticatory system. One such factor was proposed for mammals generally by Greaves ([1978] J. Zool. (Lond.) 184:271-285), who argued that the temporomandibular joint (TMJ) was poorly suited to being pulled apart. In this constrained lever model, the avoidance of joint distraction leads to limitations on masticatory system form and function. The goal of the present study was to quantify masticatory system diversity in anthropoid primates for comparison with these predictions. Results indicate that all sampled taxa exhibit a form that is consistent with selection against regular distraction of the TMJ. Also apparent from observed patterns of scaling is a regular interaction among a limited set of cranial and dental dimensions, in accordance with the constrained model. However, the data indicate that specific positional relationships among the muscles, joints, and teeth differ from those predicted by Greaves (1978). The pattern of deviation suggests that selection has favored a conservative masticatory system configuration that safeguards the TMJ from distraction during the dynamic processing of irregular foods. The resulting buffered model leads to alternative hypotheses regarding the response of the masticatory system to dietary selection pressures. It may, therefore, improve our understanding of the adaptive significance of primate craniofacial form.

Animals↗

Monitoring genome evolution ex vivo: reversible chromosomal integration of a 106 kb plasmid at two tRNA(Lys) gene loci in sequential Pseudomonas aeruginosa airway isolates.

The genome rearrangements in sequential Pseudomonas aeruginosa clone K isolates from the airways of a patient with cystic fibrosis were determined by an integrated approach of mapping, sequencing and bioinformatics. Restriction mapping uncovered an 8.9 kb deletion of PAO sequence between phnAB and oprL in clone K, and two 106 kb insertions either adjacent to this deletion or several hundred kilobases away, close to the pilA locus. These 106 kb blocks of extra DNA also co-existed as the circular plasmid pKLK106 in several clone K isolates and were found to be closely related to plasmid pKLC102 in P. aeruginosa clone C isolates. The breakpoints of the deletion in clone K and the attB-attP sequences for the reversible integration of the plasmid in clones C and K were located within the 3' end of the lysine tRNA structural genes (att site). pKLK106 sequentially recombined with either of the two tRNA(Lys) genes in clone K isolates. The att site of the pilA hypervariable region has been utilized by clone C to target its plasmid pKLC102 into the chromosome; the att site of the phnAB-oprL region has been employed by strain PAO to incorporate a DNA block encoding pyocin, transposases and IS elements. The use of typical phage attachment sites by conjugative genetic elements could be one of the major mechanisms used by P. aeruginosa to generate the mosaic genome structure of blocks of species-, clone- and strain-specific DNA. The example described here demonstrates the potential impact of systematic genome analysis of sequential isolates from the same habitat on our understanding of the evolution of microbial genomes.

Base Sequence↗

Analytical solutions of a simple enzyme kinetic problem by a perturbative procedure.

A systematic perturbative procedure (the method of singular perturbation) is developed to follow the time evolution of an enzyme catalyzed reaction with one intermediate product over the entire time domain of interest. The perturbation parameter is the ratio of the enzyme concentration to the Michaelis-Menten constant. The treatment leads to a meaningful definition of the so-called quasi-steady state often invoked in the description of enzyme catalyzed reactions. The legitimacy and the domain of validity of this assumption are examined in the context of both the reversible and irreversible Michaelis-Menten kinetics.

Chemical Phenomena↗

Systematic procedure for ultrasonically assisted lipoplasty.

It is well known that liposuction is the extraction of fat tissue from localized areas through small incisions with the use of a cannula and a vacuum pump. Since we began liposuction 18 years ago in our Department of Plastic and Reconstructive Surgery at the Clinica RUBER of Madrid, more than 1,300 patients have been treated with this procedure. During this time, instruments and techniques have been dramatically improved: there have been changes in methods (from the dry method to the wet and super-wet ones), in instruments (from the large caliber cannulae to the small caliber ones), and in application (from the deep aspiration plane to the superficial one) [1-5]. We presently have completely developed a systematic procedure for conventional liposuction (CL) which produces excellent results and provides a foreseen evolution in all patients, and that we have combined with the new ultrasonically assisted lipoplasty (UAL) to get very satisfactory results.

Adult↗

Evolution of aortic dissection after surgical repair.

Patients after aortic dissection repair still have long-term unfavorable prognosis and need careful monitoring. The purpose of this study was to analyze the evolution of aortic dissection after surgical repair in correlation to anatomic changes emerging from systematic magnetic resonance imaging (MRI) follow-up. Between January 1992 and June 1998, 70 patients underwent surgery for type A aortic dissection. Fifty-eight patients were discharged from the hospital (17% operative mortality) and were followed by serial MRI for 12 to 90 months after surgery. In all, 436 postoperative MRI examinations were analyzed. In 13 patients (22.5%) no residual intimal flap was identified, whereas 45 patients (77.5%) presented with distal dissection, with a partial thrombosis of the false lumen in 24. The yearly aortic growth rate was maximum in the descending aortic segment (0.37 +/- 0.43 cm) and was significantly higher in the absence of thrombus in the false lumen (0.56 +/- 0.57 cm) (p <0.05). There were 4 sudden deaths, with documented aortic rupture in 2. Sixteen patients underwent reoperation for expanding aortic diameter. In all but 1 patient, a residual dissection was present (in 13 without any thrombosis of the false lumen). Close MRI follow-up in patients after dissection surgical repair can identify the progression of aortic pathology, providing effective prevention of aortic rupture and timely reoperation. Thrombosis of the false lumen appears to be a protective factor against aortic dilation.

Adult↗

Advances in Single-Molecule Immunoassay: From Counting Strategies to CRISPR-Enhanced Biosensing.

Single-molecule immunoassays (SMIs) overcome the sensitivity limitations of conventional bulk measurements by enabling a paradigm shift from analog to digital signal readouts, thereby facilitating highly sensitive quantification of ultra-low-abundance biomarkers for precision diagnostics. This review provides a systematic overview of recent advances in SMI technologies and the conceptual framework underlying their evolution. First, discretization strategies for single-molecule counting are classified into hard discretization, based on physical confinement, and soft discretization, based on spatiotemporal isolation, within heterogeneous and homogeneous assay systems, respectively. The fundamental mechanisms by which these strategies mitigate diffusion limitations and enhance signal-to-noise ratios are discussed. Second, the integration of SMIs with CRISPR-based diagnostic systems (CRISPR-dx) is examined, with particular emphasis on their complementary roles in target recognition and signal amplification. Finally, recent applications of SMIs in the diagnosis of oncological, neurological, infectious, and cardiovascular diseases are summarized, along with a critical discussion of current engineering challenges and future directions toward clinical translation.

Immunoassay↗

Oral pigmentation.

Oral pigmentation may be physiological or pathological in nature. It may represent a localized anomaly of limited significance or the presentation of potentially life-threatening multisystem disease. Evaluation of a patient with oral pigmentation requires a systematic approach with resource to appropriate investigations in certain circumstances. A full history of evolution of the pigmentary changes, as well as inquiring into family history, drug ingestion and systemic symptoms of concurrent disease are clearly important in the assessment. The duration, pattern, hue and distribution of colour changes can provide useful diagnostic clues. Special attention is given to newly appearing lesions, or those that have changed significantly in appearance, and biopsy may be needed to validate the clinical impression. This review should enable the reader to increase their familiarity with the assessment of oral pigmentation, the common causes of oral pigmentary change and the rarer disorders of pigmentation seen in this area. The systemic diseases that may give rise to oral pigmentation are detailed and the early signs of oral melanoma are highlighted, as well as the drugs which may cause pigmentary changes in this area and the different pattern of pigmentation they may induce.

Biopsy, Needle↗