Miracle-dz/UniFAR-FTUs huggingface dataset:
Detection of complex hemoglobinopathies: recommendations on screening and DNA testing

The following recommendations should be taken into account during the evaluation and elucidation of the complex hemoglobinopathies: a) in complex hemoglobinopathies performing DNA studies on all family members might be essential; b) complex gene-gene interactions offer major diagnostic challenges both at the technical and clinical level; c) hematological & DNA analyses must be run in parallel. Some cases may be straight forward but others may require indepth DNA work-up; d) co-inheritance of a-thalassemia offers added challenge as it may affect phenotype significantly; e) sickle cell anemia (SS), co-inherited with a-thal, can be a phenocopy of Sβ0-thal. The HbA2 increase can be mistaken for Sβ-thal. DNA Sequencing is imperative; f) only a selected number of normal MCV, MCH, borderline HbA2 cases must be referred for DNA analysis. However, in certain cases, following hematological and family evaluation, the β and d genes may need to be sequenced; g) DNA Sequencing will increasingly become the method of choice for screening and DNA mutation analysis. However, new methods like MLPA-which analyzes gene dosage- must be used more commonly to rule out deletion mutants to avoid false negative sequencing results; h) these recommendations should be reviewed every 2-3 years reflecting new methods, new findings and new findings from ethnic groups. 诊断和说明复杂血红蛋白病时，建议考虑以下几点： a）针对复杂的血红蛋白病，有必要对所有家庭成员开展DNA研究；b) 复杂的基因-基因交互作用可能使诊断在技术和临床层面上颇受挑战；c) 血液和DNA分析须同时进行。 有些病例简单，但另外一些病例可能需要开展深层次的DNA检查；d) 由于α型地中海贫血可能严重影响表型，α型地中海贫血的共同继承特征更具挑战；e) 共同继承α型地中海贫血的镰状细胞贫血（SS），可以作为Sβ0型地中海贫血的显型。 HbA2增量可能错误判断为Sβ0型地中海贫血。 必须进行DNA测序。 f) 为方便DNA分析，必须参考选定数量的MCV、MCH、边境线HbA2正常病例。 然而，在某些情况下，继血液和家庭成员诊断后，可能需要测定β和δ基因的顺序；g) DNA测序将逐渐成为筛查和DNA突变分析的选择方法。 然而，为避免“假阴性”测序结果，必须更普遍地使用分析基因量的新方法（比如MLPA），以排除缺失突变体；h)应每2-3年审查一次这些推荐方法，反映新方法，新发现以及来自少数族群的新发现。
The Braincase and Inner Ear of Placodus gigas (Sauropterygia, Placodontia)—A New Reconstruction Based on Micro-Computed Tomographic Data

ABSTRACT Placodus gigas is an unarmored placodont marine reptile (Diapsida, Sauropterygia) known from the Middle Triassic of Europe, most commonly found in the shallow marine carbonate facies of the German Muschelkalk (lower Anisian to middle Ladinian, approximately 243–235 Ma). Generally, the morphology of the skull is well understood, with the exception of the braincase, which is partially obscured by dermatocranial bone. Two skulls that display well-preserved and intact chondrocranial elements were scanned using industrial micro-computed tomography (µCT), thus revealing parts of the braincase that were previously obscured and allowing a new three-dimensional reconstruction of the region to be constructed. This includes a complete osteological description, the first reconstruction of a sauropterygian vestibular apparatus, and a new virtual cranial endocast. The morphology of the braincase and sphenoid region has been revised, revealing the position of the hypophyseal pit. The enigmatic ‘alisphenoid bridge’ has been reinterpreted as being a dorsally extended dorsum sellae. The vestibular apparatus is shown to have strongly dorsoventrally compressed vertical semicircular canals, a commonly observed morphology of other marine reptiles, and an ‘alert’ head position of about 20°, indicating a highly aquatic lifestyle. Because placodonts are the sister group to all other sauropterygians, these new data are of great comparative and phylogenetic significance, providing insight into some of the morphological and functional changes that occurred on the stem leading to the more derived sauropterygians.
Ecological segregation among Thick-billed Murres (Uria lomvia) and Common Murres (Uria aalge) in the Northwest Atlantic persists through the nonbreeding season

To study the influence of inter- and intra-specific interactions on patterns of ecological segregation in nonbreeding habitat, we used geolocators to track year-round movements of congeneric and partially sympatric Thick-billed Murres (Uria lomvia (L., 1758)) and Common Murres (Uria aalge (Pontoppidan, 1763)) from seven Canadian colonies during 2007–2011. Locations from 142 individuals were (i) examined for species- and colony-specific spatiotemporal patterns, (ii) mapped with environmental data, and (iii) used to delineate core wintering areas. Compared with Common Murres, Thick-billed Murres dispersed across a wider range of latitudes and environments, had larger winter ranges, and showed greater variation in seasonal timing of movements. These interspecific differences were consistent at two scales: among colonies spanning a wide latitudinal range and at a sympatric colony. Intraspecifically, nonbreeding ecological segregation was more pronounced among colonies of Thick-billed Murres than of Common Mur.
Floristic reevaluation of a created wetland in Portsmouth, New Hampshire

Abstract Long-term reassessment of floristic diversity in created wetlands is needed to gain an understanding of how wetlands created for mitigation mature floristically. A thorough floristic survey of a 17-year old created wetland in southeastern New Hampshire was conducted to compare current data to a 1992 floristic study of the site. The flora in 2002 included 110 species, whereas the total number of species recorded in 1992 was 101. Not only had diversity increased, but the flora had changed in a 10-year span; the floristic lists of the two years showed 79 shared species. Sørensen's Index of Similarity revealed a floristic similarity of 75%. Carex atherodes, new to the site in 2002, represents a new state record for New Hampshire. As there is a great need for long-term evaluation of mitigation wetlands, these data contribute toward a better understanding of the maturation of created wetlands, and can be used to make more meaningful floristic comparisons with natural wetlands and evaluate the long term success of wetland mitigation projects.
Rapid and Sensitive Detection of Xanthomonas fragariae by Simple Alkaline DNA Extraction and the Polymerase Chain Reaction

Methods for DNA preparation from Xanthomonas fragariae in infected or artificially contaminated strawberry plants were compared in diagnostic assays using the polymerase chain reaction (PCR). The bacterium was detected using PCR with primers specific to a region of its hrp gene. Sensitivity of detection was 1.25 x 10' CFU ml ' using DNA from bacterial suspensions prepared by an alkali extraction method. This was 10-fold more sensitive than DNA extraction by boiling, and was equal to that in which DNA was prepared by a more involved cetyltrimethylammonium bromide (CTAB) procedure. Sensitivity of detection from artificially contaminated strawberry tissues was 10-fold less than that from cell suspensions. The results indicated that a rapid and simple method of alkali DNA sample preparation is apphcable for the sensitive and reliable detection of X. fragariae and possibly other plant pathogenic bacteria.
WINTER ACTIVITY OF BATS OVER WATER AND ALONG FLYWAYS IN NEW MEXICO

Abstract During colder months in temperate regions, non-migratory bats are suspected to remain relatively inactive during hibernation. I examined activity of bats November–March in a region of North America with moderate winter temperatures. Bats were captured in nets over water and along flyways in southern and central New Mexico. In 47 nights, I captured 401 individuals representing 12 species. Captures for 10 species represent records of bats previously unknown outside roosts during colder months in New Mexico. The western pipistrelle (Pipistrellus hesperus), silver-haired bat (Lasionycteris noctivagans), California myotis (Myotis californicus), pallid bat (Antrozous pallidus), and Brazilian free-tailed bat (Tadarida brasiliensis) were captured frequently, whereas the western small-footed myotis (M. ciliolabrum), Townsend's big-eared bat (Corynorhinus townsendii), big brown bat (Eptesicus fuscus), Allen's big-eared bat (Idionycteris phyllotis), hoary bat (Lasiurus cinereus), fringed myotis (M. thysanodes), and Arizona myotis (M. occultus) were captured infrequently. Except for A. pallidus, I documented many individuals of the commonly captured species feeding November–March, and I also saw many individuals drinking during those months. Body masses of most species were lowest in March. During the study, activity of bats was positively, but not significantly, correlated with ambient air temperature at dusk. In this region of North America, many individuals of several species do not hibernate for the entire winter nor do they migrate from the region.
Large Woody Debris Structures and Their Influence on Atlantic Salmon Spawning in a Stream in Nova Scotia, Canada

Abstract Although large woody debris from streamside vegetation has profound influences on channel morphology and habitat for salmonid fishes, it has often been depleted by channelization or deforestation of the riparian zone. We installed artificial structures mimicking naturally fallen trees in a third-order stream in northern Nova Scotia from 1992 to 2004 to determine whether the structures enhanced spawning success of Atlantic salmon Salmo salar. In total, 250 digger logs (which mimic fallen tree trunks and stimulate formation of pools) and bank deflectors (which encourage meandering) were constructed in degraded reaches of Brierly Brook beginning at the downstream end. We monitored spawning each year by counting redds during the fall spawning season. Spawning rates (redd counts) in the whole brook increased exponentially for the first 4 years after restoration work began, from 43 in 1992 to 592 in 1996. By 1996, the entire length of Brierly Brook contained redds, and Atlantic salmon were using gravel.
ENVIRONMENT‐DEPENDENT POLLEN LIMITATION AND SELECTION ON FLORAL TRAITS IN AN ALPINE SPECIES

Phenotypic selection on flower size in animal-pollinated plants can only occur when fitness is limited by pollinator visitation and when there is a relationship between flower size and pollinator attraction. The purpose of this study was (a) to examine how abiotic environmental conditions affect pollen limitation on female reproductive success and pollinator flower visitation and (b) to reveal whether phenotypic selection on floral traits in an alpine flowering species varied across an abiotic environmental gradient. In alpine populations of the perennial herb Ranunculus acris, I found that female reproductive success in a low-altitude population was significantly increased by experimental pollen addition, while plants at a higher altitude population did not respond to this treatment, presumably because low temperatures limited their seed production. At the low altitude, pollinators (muscoid flies) preferred to visit relatively large flowers, while no sign of flower discrimination occurred at the high altitude. Phenotypic selection regression analysis found that selection on flower size traits was more intense and frequent at the low-altitude compared to the high-altitude population. This result is consistent with the findings of stronger pollen limitation on seed set and the existence of pollinator discrimination on flower size at the low altitude compared to the high altitude. Pollinator visitation rates to flowers were nearly three times higher at the low altitude, compared to the high altitude. Thus, this study shows that the commonly assumed pathway from low pollinator availability to strong pollen limitation is not always correct but supports the view that selection on floral traits is positively related to the degree of pollen limitation. In R. acris environmental factors interact with pollen availability in determining the reproductive success of plants, and this interrupts the pathway from low pollinator availability via significant pollen limitation to selection on floral traits.
Categories of petal senescence and abscission: A re-evaluation

In a previous paper (Woltering and van Doorn, 1988, Journal of Experimental Botany39: 1605–1616) we identified three types of flower life cessation: by petal wilting or withering, which was either ethylene-sensitive or insensitive, and by abscission of turgid petals, which was ethylene-sensitive. These categories tended to be consistent within families. Here we re-examine these relationships by testing a further 200 species, and a number of other families. As previously, flowering shoots were exposed to 3 ppm ethylene for 24 h at 20 °C, in darkness. Most monocotyledonous species tested showed ethylene-insensitive petal wilting, although ethylene-sensitive wilting occurred in the Alismataceae and Commelinaceae. Petals of the dicotyledonous species tested were generally sensitive to ethylene, except for a few groups showing wilting (Crassulaceae, Gentianaceae and Fumariaceae, and one subfamily in both the Ericaceae and Saxifragaceae). Petal abscission was generally ethylene-sensitive, but ethylene insensitivity was found in some Tulipa cultivars and three Saxifraga species. In most tulip cultivars tested, the petals wilted and then fell. It is concluded that (a) the response to ethylene is often consistent within either families or subfamilies; and (b) a fourth category, ethylene-insensitive petal abscission, exists both in monocotyledons and dicotyledons.
Species of Gyrodactylus von Nordmann, 1832 (Monogenea: Gyrodactylidae) from freshwater fishes in southern England, with a description of Gyrodactylus rogatensis sp. nov. from the bullhead Cottus gobio L.

Eleven species of Gyrodactylus were found infecting five species of freshwater fishes collected from Rogate (West Sussex, England). These were G. arcuatus and G. gasterostei from Gasterosteus aculeatus, G. pungitii from Pungitius pungitius, G. aphyae, G. laevis, G. limneus, G. macronychus and G. minimus from Phoxinus phoxinus, G. pavlovskyi and G. sedelnikowi from Noemacheilus barbatulus and G. rogatensis n.sp. from Cottus gobio. G. (Limnonephrotus) rogatensis is a member of the G. wageneri species group, and can be distinguished from closely related species (G. aphyae, G. pungitii and G. gasterostei) by its relatively long marginal hooks and by the abruptly tapering toes of its marginal hook sickles. Each parasite was collected from a single host species, and each was narrowly site-specific. With the exception of G. rogatensis, all of the gyrodactylids collected at Rogate also occur in Continental Eurasia, suggesting that they colonized Britain with their hosts via the Doggerland land bridge after the De.
TNF‐α impairs peripheral tolerance towards β‐cells, and local costimulation by B7.1 enhances the effector function of diabetogenic T cells

Maintenance of peripheral tolerance and inactivation of autoreactive T cells is based on a delicate balance between pro‐inflammatory and protective cytokines that is poorly understood. We havehere addressed how the local expression of the inflammatory cytokine TNF‐α can impair peripheral tolerance and lead to autoreactivity. After transplantation of pancreata that are immunogenic due to β‐cell expression of B7.1 and TNF‐α, into thymectomized and euthymic syngeneic mice, we found that only euthymic mice rejected the grafts. This result suggests that under normal circumstances autoreactive T cells are functionally inactivated, and initiation of an autoreactive response requires de‐novo generation of T cells. By contrast, thymectomized mice expressing TNF‐α on the endogenous islets rejected the grafts, showing that expression of TNF‐α prevents functional silencing of the autoreactive T cells. Thus, this study provides a mechanism by which TNF‐α and possibly chronic inflammatory responses may promote autoimmune diseases. Furthermore, we have investigated whether B7.1 can enhance T cell responses of already activated T cells leading to islet rejection. By transplantation of wild‐type and B7.1‐expressing islets into overtly diabetic mice we found that only the wild‐type islets could restore normoglycemia, suggesting that costimulation by B7.1 is required in the expansion or effector phase of the response.
Environmental and Parental Influences on Age at Maturity in Sockeye Salmon (Oncorhynchus nerka) from the Fraser River, British Columbia

Commercial fisheries possess the potential for applying strong selection on size or age at maturity in the populations they exploit. It is therefore important to know the extent to which these traits are inherited. We examined regressions of the mean age at maturity of cohorts of offspring on the mean ages of the female and male spawners which produced them for four populations of sockeye salmon (Oncorhynchus nerka) from the Fraser River, British Columbia. Unlike previous researchers, we found that neither genetic nor maternal effects are important, relative to environmental variables, in influencing year-to-year variation in age at maturity in these stocks. The differences between our findings and earlier ones are due to a longer data series and more complete population statistics than were available previously. We further analyzed the age structure of the Adams River population, which has a cyclic pattern of abundance. Fluctuating population density appeared to account for variation in age structure amo.
MORPHOLOGICAL AND HISTOLOGICAL STUDY OF SUPERIOR LACRIMAL GLAND OF THIRD EYELID IN CAMEL (CAMELUS DROMEDARIUS)

Summary In this study ten pairs of superior gland of third eyelid of 10 adult male camels free of apparent ocular disease were examined to compare the normal anatomical and histological properties of these glands. After dissecting, all of the glands were characterized and measured (length and width) on both the left and right side. In the camels, the superior gland of the third eyelid was oval shaped and irregular in outline. The gland was located within the orbit on the medial aspect of the eyeball in animals that possess a nictitating membrane. Posterior surface of the gland was convex and attached to the nictitating membrane. The anterior surface that is contacted with the bulb of the eye was concave. The mean length of the superior gland of the third eyelid was 28.7 ± 2.7 mm and 27.2 ± 2.4 mm in the left and right side, respectively in the anteriorposterior direction. The mean width was 17.4 ± 0.8 mm and 16.1 ± 0.9 mm on the left and right side, respectively in the superior-inferior dimension. There was significant difference between the width of the left and right superior gland of the third eyelid. The mean width of the left superior gland was greater than the right (P<0.05). The histology of the gland revealed secretary units of tubuloacinar and serous with scattered alveolar units. Secretory cells had the typical appearance of serous cells. Tubuloacinar units completely surrounded the hyaline cartilage of the third eyelid. The Masson Trichrome stained connective tissue septae surround the individual acinus and tubules in camel superior gland. Larger sheets of connective tissue with inter and intralobular ducts as well as veins and arteriols were found and separated the gland into lobules.
The importance of 'outsiders' in small firm strategic planning Academy of Management Journal Vol. 25, No. 1, 1982, pp.80-93

Academy of Management Journal Vol. 25, No. 1, 1982, pp.80-93 The author surveys the relevant literature and notes references supporting the following conclusions: (1) Small firm owner/managers do not engage in systematic planning; (2) Some empirical evidence is available to support the view that planning is a beneficial activity; and (3) much prescriptive or anecdotal literature emphasises the important role of ’outsiders’ in the planning process. Outsiders may be consultants, lawyers, accountants, bankers, boards of directors, or agency-based individuals. Their contribution to strategic planning is thought to be valuable not only by virtue of their particular professional competences, but also because of the catalytic role they play in introducing entrepreneurs to the planning process. The author examines these observations by comparing data on 101 firms using outsiderbased strategic planning (OBSP) (clients of the Small Business Development Centre program) with 101 firms included in published studies of annual financial statements, and 61 firms using a book-keeping bureau service. It is asserted that the latter samples do not use OBSP, and therefore form control groups. Each group satisfies a test of representativeness against appropriate small firm populations. Firm performance is measured using profitability (defined as net profit before tax divided by sales), and effectiveness, which is a multivariate constructed from measures of growth, profitability (either as above or with owners remuneration added back), productivity, and employment. A measure of change is defined according to what is most suitable for each variable. The null hypothesis (viz. that OBSP should make no significant difference to either profitability or effectiveness) is then tested by comparing preand post-OBSP performance amongst the groups. It is rejected at the 5% level (except for the productivity element in effectiveness). These results are offered in support of cited views on the importance of strategic planning and the author concludes that &dquo;. a major necessity . is the comprehensive inclusion of outsiders in the planning effort&dquo;. This conclusion is later modified in suggestions for further research into the role performed by the outsider.
Song, stress and female preferences in the zebra finch, Taeniopygia guttata

The developmental stress hypothesis proposes that complex songs evolved as honest signals of developmental history. I tested the mate choice behaviour of female zebra finches, Taeniopygia guttata, that had been reared under control conditions or nutritional stress. In a visual mate choice experiment, neither control nor stressed females showed agreement in preference but stressed females were less active than controls, and moved less often between stimulus males. In an acoustic choice experiment, females preferred complex songs to simplified ones, but stressed and control females did not differ in the direction or strength of song preferences. These findings suggest that quality of the rearing environment does not affect females' ability to discriminate between male signals, but could have long term, context-dependent effects on choosiness or other aspects of female choice behaviour. In contrast to previous studies, I found no difference between stressed and control males in brain or song characteristics. I calculated the relative influence of environmental and genetic factors on neutral development and song structure, finding evidence that song might signal information regarding both developmental history and genetic quality. I recorded male songs from wild zebra finches in a breeding colony in New South Wales. Song structure in this population predicted a male's reproductive success but not his morphology, or that of his mate. Finally, I summarize the evidence for the developmental stress hypothesis and suggest areas for further research. Together, my results illustrate the importance of understanding the consequences of early environmental conditions for female choice and male attractiveness.