Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.

Most cases of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol, are caused by mutations in the steroid 21-hydroxylase gene (CYP21). Steroid 21-hydroxylase deficiency is unusual among genetic diseases in that approximately 95% of the mutant alleles have apparently been generated by recombination between a normally active gene (CYP21) and a linked pseudogene (CYP21P). Approximately 20% of mutant alleles carry DNA deletions of 30 kb that have presumably been generated by unequal meiotic crossing-over, whereas 75% carry one or more mutations in CYP21 that are normally found in the CYP21P pseudogene. These latter mutations are termed "gene conversions," although the mechanism by which they are generated is not well understood. To assess the frequency at which these different recombination events occur, we have used PCR to detect de novo deletions and gene conversions in matched sperm and peripheral blood leukocyte DNA samples from normal individuals. Deletions with breakpoints in a 100-bp region in intron 2 and exon 3 were detected in sperm DNA samples with frequencies of approximately 1 in 10(5)-10(6) genomes but were never detected in the matching leukocyte DNA. Gene conversions in the same region occur in approximately 1 in 10(3)-10(5) genomes in both sperm and leukocyte DNA. These data suggest that whereas deletions occur exclusively in meiosis, gene conversions occur during both meiosis and mitosis, or perhaps only during mitosis. Thus, gene conversions must occur by a mechanism distinct from unequal crossing-over.

Persistent high frequency of human immunodeficiency virus-specific cytotoxic T cells in peripheral blood of infected donors.

Human immunodeficiency virus (HIV)-specific cytotoxic T lymphocytes (CTLs) are thought to play a major role in the immune response to HIV infection. The HIV-specific CTL response is much stronger than previously documented in an infectious disease, yet estimates of CTL frequency derived from limiting-dilution analysis (LDA) are relatively low and comparable to other viral infections. Here we show that individual CTL clones specific for peptides from HIV gag and pol gene products are present at high levels in the peripheral blood of three infected patients and that individual CTL clones may represent between 0.2% and 1% of T cells. Previous LDA in one donor had shown a frequency of CTL precursors of 1/8000, suggesting that LDA may underestimate CTL effector frequency. In some donors individual CTL clones persisted in vivo for at least 5 years. In contrast, in one patient there was a switch in CTL usage suggesting that different populations of CTLs can be recruited during infection. These data imply strong stimulation of CTLs, potentially leading some clones to exhaustion.

Presence of antibodies to different subunits of replication protein A in autoimmune sera.

A human cDNA expression library was used to investigate the nature of molecules recognized by serum from a patient with Sjögren syndrome that exhibits a mixed immunofluorescence pattern and reacts with multiple components on an immunoblot. The data demonstrated that this serum contains IgG antibodies specific for the 70- and 32-kDa subunits of replication protein A (RPA; RPA-70 and RPA-32, respectively), a highly conserved multisubunit DNA binding protein. Affinity purification of serum autoantibodies demonstrated a complete lack of cross-reactivity between RPA-70 and RPA-32, suggesting a direct participation of the native protein complex in the autoimmune response in this patient. Purified anti-RPA-70 and anti-RPA-32 antibodies labeled nuclear and cytoplasmic components in an immunofluorescence assay, suggesting that RPA is present in both cellular compartments. Additional sera from 55 patients with different autoimmune conditions were screened against purified RPA-70 and RPA-32 recombinant proteins. One of these 55 sera was positive and reacted with only RPA-32. Twenty sera from healthy control individuals did not react with RPA. These results show that RPA is a target for autoantibodies in human autoimmune diseases, although its precise frequency, occurrence in other autoimmune diseases, and pathological significance remain to be fully elucidated.

Vibration frequency measurement using a local multithreshold technique

In this paper, we demonstrate the use of a video camera for measuring the frequency of small-amplitude vibration movements. The method is based on image acquisition and multilevel thresholding and it only requires a video camera with high enough acquisition rate, not being necessary the use of targets or auxiliary laser beams. Our proposal is accurate and robust. We demonstrate the technique with a pocket camera recording low-resolution videos with AVI-JPEG compression and measuring different objects that vibrate in parallel or perpendicular direction to the optical sensor. Despite the low resolution and the noise, we are able to measure the main vibration modes of a tuning fork, a loudspeaker and a bridge. Results are successfully compared with design parameters and measurements with alternative devices.

A Computational Method based on Radio Frequency Technologies for the Analysis of Accessibility of Disabled People in Sustainable Cities

The sustainability strategy in urban spaces arises from reflecting on how to achieve a more habitable city and is materialized in a series of sustainable transformations aimed at humanizing different environments so that they can be used and enjoyed by everyone without exception and regardless of their ability. Modern communication technologies allow new opportunities to analyze efficiency in the use of urban spaces from several points of view: adequacy of facilities, usability, and social integration capabilities. The research presented in this paper proposes a method to perform an analysis of movement accessibility in sustainable cities based on radio frequency technologies and the ubiquitous computing possibilities of the new Internet of Things paradigm. The proposal can be deployed in both indoor and outdoor environments to check specific locations of a city. Finally, a case study in a controlled context has been simulated to validate the proposal as a pre-deployment step in urban environments.

Software for video-based multi-point frequency measuring and mapping

Complementary programs

Methods and algorithms for video-based multi-point frequency measuring and mapping

Software for video-based multi-point frequency measuring and mapping: http://hdl.handle.net/10045/53429

(Table 8.4, Page 220-223) Chemical composition of different growth structures of manganese nodules, SONNE cruise SO78

In the nodule field of the Peru Basin, situated south of the zone of high bioproductivity, a relatively high flux of biogenic matter explains a distinct redox boundary at about 10 cm depth separating very soft oxic surface sediments from stiffer suboxic sediments. Maximum abundance (50 kg/m**2) of diagenetic nodules is found near the calcite compensation depth (CCD), currently at 4250 m. There, the accretion rate of nodules is much higher (100 mm/Ma) than on ridges (5 mm/Ma). Highest accretion rates are found at the bottom of large nodules that repeatedly sink to a level immediately above the redox boundary. There, distinct diagenetic growth conditions prevail and layers of dense laminated Mn oxide of very pure todorokite are formed. The layering of nodules is mainly the result of organisms moving nodules within the oxic surface sediment from diagenetic to hydrogenetic environments. The frequency of such movements is much higher than that of climatic changes. Two types of nodule burial occur in the Peru Basin. Large nodules are less easily moved by organisms and become buried. Consequently, buried nodules generally are larger than surface nodules. This type of burial predominates in basins. At ridges where smaller nodules prevail, burial is mainly controlled by statistical selection where some nodules are not moved up by organisms.

Shell size, body mass and average pO2 in mantle cavity water of different marine mollusc species

Marine invertebrates with open circulatory system establish low and constant oxygen partial pressure (Po2) around their tissues. We hypothesized that as a first step towards maintenance of low haemolymph and tissue oxygenation, the Po2 in molluscan mantle cavity water should be lowered against normoxic (21 kPa) seawater Po2, but balanced high enough to meet the energetic requirements in a given species. We recorded Po2 in mantle cavity water of five molluscan species with different lifestyles, two pectinids (Aequipecten opercularis, Pecten maximus), two mud clams (Arctica islandica, Mya arenaria), and a limpet (Patella vulgata). All species maintain mantle cavity water oxygenation below normoxic Po2. Average mantle cavity water Po2 correlates positively with standard metabolic rate (SMR): highest in scallops and lowest in mud clams. Scallops show typical Po2 frequency distribution, with peaks between 3 and 10 kPa, whereas mud clams and limpets maintain mantle water Po2 mostly <5 kPa. Only A. islandica and P. vulgata display distinguishable temporal patterns in Po2 time series. Adjustment of mantle cavity Po2 to lower than ambient levels through controlled pumping prevents high oxygen gradients between bivalve tissues and surrounding fluid, limiting oxygen flux across the body surface. The patterns of Po2 in mantle cavity water correspond to molluscan ecotypes.

Mid-to Late Holocene flood frequency in the northeastern Alps as recorded in varved sediments of Lake Mondsee

Annually laminated (varved) lake sediments with intercalated detrital layers resulting from sedimentary input by runoff events are ideal archives to establish precisely dated records of past extreme runoff events. In this study, the mid- to late Holocene varved sediments of Lake Mondsee (Upper Austria) were analysed by combining sedimentological, geophysical and geochemical methods. This approach allows to distinguish two types of detrital layers related to different types of extreme runoff events (floods and debris flows) and to detect changes in flood activity during the last 7100 years. In total, 271 flood and 47 debris flow layers, deposited during spring and summer, were identified, which cluster in 18 main flood episodes (FE 1-18) with durations of 30-50 years each. These main flood periods occurred during the Late Neolithic (7100-7050 vyr BP and 6470-4450 vyr BP), the late Bronze Age and the early Iron Age (3300-3250 and 2800-2750 vyr BP), the late Iron Age (2050-2000 vyr BP), throughout the Dark Ages Cold Period (1500-1200 vyr BP), and at the end of the Medieval Warm Period and the Little Ice Age (810-430 vyr BP). Summer flood episodes in Lake Mondsee are generally more abundant during the last 1500 years, often coinciding with major advances of alpine glaciers. Prior to 1500 vyr BP, spring/summer floods and debris flows are generally less frequent, indicating a lower number of intense rainfall events that triggered erosion. In comparison with the increase of late Holocene flood activity in western and northwestern (NW) Europe, commencing already as early as 2800 yr BP, the hydro-meteorological shift in the Lake Mondsee region occurred much later. These time lags in the onset of increased hydrological activity might be either due to regional differences in atmospheric circulation pattern or to the sensitivity of the individual flood archives. The Lake Mondsee sediments represent the first precisely dated and several millennia long summer flood record for the northeastern (NE) Alps, a key region at the climatic boundary of Atlantic, Mediterranean and East European air masses aiding a better understanding of regional and seasonal peculiarities of flood occurrence under changing climate conditions.

Frequency, Form, and Distribution of Illocutionary Speech Acts in Swedish Parent-Child Interaction

In this study, young children’s development of speech acts was examined. Interaction between six Swedish-speaking parents and their children was observed. The frequency, form and distribution of speech acts in the output from the parents were compared with the frequency, form and distribution of the children’s speech acts. The frequency was measured by occurrences per analysed session. The aim of the analysis was to examine if the parent’s behaviour could be treated as a baseline for the child’s development. Both the parents’ and the children’s illocutionary speech acts were classified. Each parent-child dyad was observed at four different occasions, when the children were 1;0, 1;6, 2;0, and 2;6 years of age. Similar studies have previously shown that parents keep a consistent frequency of speech acts within a given time span of interaction, though the distribution of different types of speech acts may shift, depending on contextual factors. The form, in terms of Mean Length of Speech Act in Words (MLSAw), were correlated with the longitudinal result of the children’s MLSAw. The distribution of the parents’ speech acts showed extensive individual differences. The result showed that the children’s MLSAw move significantly closer the MLSAw of their parents. Since the parent’s MLSAw showed a wide distribution, these results indicate that the parent’s speech acts can be treated as a baseline for certain aspects of the children’s development, though further studies are needed.

Injury and frequency of use of playground equipment in public schools and parks in Brisbane, Australia

Objective: The purpose of this study was to determine the frequency of use of play equipment in public schools and parks in Brisbane, Australia, and to estimate an annual rate of injury per use of equipment, overall and for particular types of equipment. Methods: Injury data on all children injured from playground equipment and seeking medical attention at the emergency department of either of the two children's hospitals in the City of Brisbane were obtained for the years 1996 and 1997. Children were observed at play on five different pieces of play equipment in a random sample of 16 parks and 16 schools in the City of Brisbane. Children injured in the 16 parks and schools were counted, and rates of injury and use were calculated. Results: The ranked order for equipment use in the 16 schools was climbing equipment (3762 uses), horizontal ladders (2309 uses), and slides (856 uses). Each horizontal ladder was used 2.6 times more often than each piece of climbing equipment. Each horizontal ladder was used 7.8 times more than each piece of climbing equipment in the sample of public parks. Slides were used 4.6 times more than climbing equipment in parks and 1.2 times more in public schools. The annual injury rate for the 16 schools and 16 parks under observation was 0.59/100000 and 0.26/100000 uses of equipment, respectively. Conclusions: This study shows that annual number of injuries per standardized number of uses could be used to determine the relative risk of particular pieces of playground equipment. The low overall rate of injuries/100000 uses of equipment in this study suggests that the benefit of further reduction of injury in this community may be marginal and outweigh the economic costs in addition to reducing challenging play opportunities.

The effect of weightbearing exercise with low frequency, whole body vibration on lumbosacral proprioception: A pilot study on normal subjects

Patients with low back pain (LBP) often present with impaired proprioception of the lumbopelvic region. For this reason, proprioception training usually forms part of the rehabilitation protocols. New exercise equipment that produces whole body, low frequency vibration (WBV) has been developed to improve muscle function, and reportedly improves proprioception. The aim of this pilot study was to investigate whether weightbearing exercise given in conjunction with WBV would affect lumbosacral position sense in healthy individuals. For this purpose, twenty-five young individuals with no LBP were assigned randomly to an experimental or control group. The experimental group received WBV for five minutes while holding a static, semi-squat position. The control group adopted the same weightbearing position for equal time but received no vibration. A two-dimensional motion analysis system measured the repositioning accuracy of pelvic tilting in standing. The experimental (WBV) group demonstrated a significant improvement in repositioning accuracy over time (mean 0.78 degrees) representing 39% improvement. It was concluded that WBV may induce improvements in lumbosacral repositioning accuracy when combined with a weightbearing exercise. Future studies with WBV should focus on evaluating its effects with different types of exercise, the exercise time needed for optimal outcomes, and the effects on proprioception deficits in LBP patients.

Habitat selection and breeding success in a forest-nesting Alcid, the marbled murrelet, in two landscapes with different degrees of forest fragmentation

We studied habitat selection and breeding success in marked populations of a protected seabird (family Alcidae), the marbled murrelet (Brachyramphus marmoratus), in a relatively intact and a heavily logged old-growth forest landscape in south-western Canada. Murrelets used old-growth fragments either proportionately to their size frequency distribution (intact) or they tended to nest in disproportionately smaller fragments (logged). Multiple regression modelling showed that murrelet distribution could be explained by proximity of nests to landscape features producing biotic and abiotic edge effects. Streams, steeper slopes and lower elevations were selected in both landscapes, probably due to good nesting habitat conditions and easier access to nest sites. In the logged landscape, the murrelets nested closer to recent clearcuts than would be expected. Proximity to the ocean was favoured in the intact area. The models of habitat selection had satisfactory discriminatory ability in both landscapes. Breeding success (probability of nest survival to the middle of the chick rearing period), inferred from nest attendance patterns by radio-tagged parents, was modelled in the logged landscape. Survivorship was greater in areas with recent clearcuts and lower in areas with much regrowth, i.e. it was positively correlated with recent habitat fragmentation. We conclude that marbled murrelets can successfully breed in old-growth forests fragmented by logging.

Relative validity of food intake estimates using a food frequency questionnaire is associated with sex, age, and other personal characteristics

We invostigated the validity of food intake estimates obtained by a self-administered FFQ relative to weighed food records (WFR) and the extent to which demographic, anthropometric, and social characteristics explain differences between these methods. A community-based sample of 96 Australian adults completed a FFQ and 12 d of WFR over 12 mo. The FFQ was adapted to the Australian setting from the questionnaire used in the US Nurses' Health Study. Spearman rank correlation coefficients ranged from 0.08 for other vegetables to 0.88 for tea. Exact agreement by quartiles of intake ranged from 27% (eggs) to 63% (tea). Differences between FFQ and WFR regressed on personal characteristics were significantly associated with at least 1 characteristic for 20 of the 37 foods. Sex was significantly associated with differences for 17 food groups, including 5 specific vegetable groups and 2 total fruit and vegetable groups. Use of dietary supplements and the presence of a medical condition were associated with differences for 5 foods; age, school leaving age, and occupation were associated with differences for 1-3 foods. BMI was rot associated with differences for any foods. Regression models explained from 3% (wholemeal bread) to 37% (for all cereals and products) of variation in differences between methods. We conclude that the relative validity of intake estimates obtained by FFQ is different for men and women for a large number of foods. These results highlight the need for appropriate adjustment of diet-disease relations for factors affecting the validity of food intake estimates.