Male-pattern baldness susceptibility locus at 20p11.

We conducted a genome-wide association study for androgenic alopecia in 1,125 men and identified a newly associated locus at chromosome 20p11.22, confirmed in three independent cohorts (n = 1,650; OR = 1.60, P = 1.1 x 10(-14) for rs1160312). The one man in seven who harbors risk alleles at both 20p11.22 and AR (encoding the androgen receptor) has a sevenfold-increased odds of androgenic alopecia (OR = 7.12, P = 3.7 x 10(-15)).

Dynamics of transient pattern formation in nematic liquid crystals

We analyze the dynamics of a transient pattern formation in the Fréedericksz transition corresponding to a twist geometry. We present a calculation of the time-dependent structure factor based on a dynamical model which incorporates consistently the coupling of the director field with the velocity flow and also the effect of fluctuations. The appearance and development of a characteristic periodicity is described in terms of the time dependence of the maximum of the structure factor. We find a well-defined time for the appearance of the pattern and a subsequent stage of pattern development in which the characteristic periodicity tends to an asymptotic value.

Nonlinear effects in the dynamics of transient pattern formation in nematics

A nonlinear calculation of the dynamics of transient pattern formation in the Fréedericksz transition is presented. A Gaussian decoupling is used to calculate the time dependence of the structure factor. The calculation confirms the range of validity of linear calculations argued in earlier work. In addition, it describes the decay of the transient pattern.

Alterations in the local myocardial motion pattern in patients suffering from pressure overload due to aortic stenosis.

BACKGROUND: MR tissue tagging allows the noninvasive assessment of the locally and temporally resolved motion pattern of the left ventricle. Alterations in cardiac torsion and diastolic relaxation of the left ventricle were studied in patients with aortic stenosis and were compared with those of healthy control subjects and championship rowers with physiological volume-overload hypertrophy. METHODS AND RESULTS: Twelve aortic stenosis patients, 11 healthy control subjects with normal left ventricular function, and 11 world-championship rowers were investigated for systolic and diastolic heart wall motion on a basal and an apical level of the myocardium. Systolic torsion and untwisting during diastole were examined by use of a novel tagging technique (CSPAMM) that provides access to systolic and diastolic motion data. In the healthy heart, the left ventricle performs a systolic wringing motion, with a counterclockwise rotation at the apex and a clockwise rotation at the base. Apical untwisting precedes diastolic filling. In the athlete's heart, torsion and untwisting remain unchanged compared with those of the control subjects. In aortic stenosis patients, torsion is significantly increased and diastolic apical untwisting is prolonged compared with those of control subjects or athletes. CONCLUSIONS: Torsional behavior as observed in pressure- and volume-overloaded hearts is consistent with current theoretical findings. A delayed diastolic untwisting in the pressure-overloaded hearts of the patients may contribute to a tendency toward diastolic dysfunction.

Quality of life depends on the drinking pattern in alcohol-dependent patients.

AIMS: In patients with alcohol dependence, health-related quality of life (QOL) is reduced compared with that of a normal healthy population. The objective of the current analysis was to describe the evolution of health-related QOL in adults with alcohol dependence during a 24-month period after initial assessment for alcohol-related treatment in a routine practice setting, and its relation to drinking pattern which was evaluated across clusters based on the predominant pattern of alcohol use, set against the influence of baseline variables METHODS: The Medical Outcomes Study 36-Item Short-Form Survey (MOS-SF-36) was used to measure QOL at baseline and quarterly for 2 years among participants in CONTROL, a prospective observational study of patients initiating treatment for alcohol dependence. The sample consisted of 160 adults with alcohol dependence (65.6% males) with a mean (SD) age of 45.6 (12.0) years. Alcohol use data were collected using TimeLine Follow-Back. Based on the participant's reported alcohol use, three clusters were identified: 52 (32.5%) mostly abstainers, 64 (40.0%) mostly moderate drinkers and 44 (27.5%) mostly heavy drinkers. Mixed-effect linear regression analysis was used to identify factors that were potentially associated with the mental and physical summary MOS-SF-36 scores at each time point. RESULTS: The mean (SD) MOS-SF-36 mental component summary score (range 0-100, norm 50) was 35.7 (13.6) at baseline [mostly abstainers: 40.4 (14.6); mostly moderate drinkers 35.6 (12.4); mostly heavy drinkers 30.1 (12.1)]. The score improved to 43.1 (13.4) at 3 months [mostly abstainers: 47.4 (12.3); mostly moderate drinkers 44.2 (12.7); mostly heavy drinkers 35.1 (12.9)], to 47.3 (11.4) at 12 months [mostly abstainers: 51.7 (9.7); mostly moderate drinkers 44.8 (11.9); mostly heavy drinkers 44.1 (11.3)], and to 46.6 (11.1) at 24 months [mostly abstainers: 49.2 (11.6); mostly moderate drinkers 45.7 (11.9); mostly heavy drinkers 43.7 (8.8)]. Mixed-effect linear regression multivariate analyses indicated that there was a significant association between a lower 2-year follow-up MOS-SF-36 mental score and being a mostly heavy drinker (-6.97, P < 0.001) or mostly moderate drinker (-3.34 points, P = 0.018) [compared to mostly abstainers], being female (-3.73, P = 0.004), and having a Beck Inventory scale score ≥8 (-6.54, P < 0.001), at baseline. The mean (SD) MOS-SF-36 physical component summary score was 48.8 (10.6) at baseline, remained stable over the follow-up and did not differ across the three clusters. Mixed-effect linear regression univariate analyses found that the average 2-year follow-up MOS-SF-36 physical score was increased (compared with mostly abstainers) in mostly heavy drinkers (+4.44, P = 0.007); no other variables tested influenced the MOS-SF-36 physical score. CONCLUSION: Among individuals with alcohol dependence, a rapid improvement was seen in the mental dimension of QOL following treatment initiation, which was maintained during 24 months. Improvement was associated with the pattern of alcohol use, becoming close to the general population norm in patients classified as mostly abstainers, improving substantially in mostly moderate drinkers and improving only slightly in mostly heavy drinkers. The physical dimension of QOL was generally in the normal range but was not associated with drinking patterns.

Ontogeny of Sleeping in Color - Linking melanism to sleep architecture and rhythmicity variation in wild barn owl nestlings

The function of sleep remains unknown. To gain insight into the function of sleep in natural conditions, I assessed variation in sleep architecture and its link with fitness-related phenotypic traits. I considered melanin-based coloration because its underlying genetic basis is very well known giving an opportunity to examine whether some genes pleiotropically regulate both coloration and sleep. The melanocortin system is known to generate covariation between melanin-based coloration and other phenotypes like behaviour, physiology and life history traits. I investigated whether this system of genes could participate in the co-expression of coloration and sleep. I carried out a study with nestling barn owls (Tyto alba) in order to tackle the potential link between variation in color traits and the ontogeny of sleep under natural conditions. For this I established a suitable method for recording the brain activity (electroencephalogram) of owls in nature. Birds are especially interesting, because they convergently evolved sleep states similar to those exhibited by mammals. As in mammals, I found that in owlets time spent in rapid eye movement (REM) sleep declines with age, a relationship thought to eflect developmental changes in the brain. Thus this developmental trajectory appears to reflect a fundamental feature of sleep. Additionally, I discovered an association between a gene involved in melanism expressed in the feather follicles (proprotein convertase subtilisin/kexin type 2, PCSK2) and the age-related changes in sleep in the brain. Nestlings with higher expression levels of PCSK2 showed a more precocial pattern of sleep development and a higher degree of melanin-based coloration compared to nestlings with lower PCSK2 expression. Also sleep architecture and the development of rhythmicity in brain and physical activity was related to plumage traits of the nestlings and their biological parents. This pattern during ontogeny might reflect differences in life l history strategies, antipredator behaviour and developmental pace. Therefore, differently colored individuals may differentially deal with trade-offs between the costs and benefits of sleep which in turn lead to differences in brain organization and ultimately fitness. These results should stimulate evolutionary biologists to consider sleep as a major life history trait. Résumé La fonction du sommeil reste inconnue. Afin d'acquérir une meilleur compréhension de la fonction du sommeil dans les conditions naturelles, j'ai analysé la variation dans l'architecture du sommeil et son lien avec d'autres traits phénotypiques liés au succès reproducteur (fitness). J'ai choisi et examiné la coloration mélanique, car ses bases génétiques sont bien connues et il est ainsi possible d'étudier si certains gènes, de façon pléiotropique régulent à la fois la coloration et le sommeil. J'ai exploré si ce système génétique était impliqué dans la co-expression de la coloration et du sommeil. J'ai effectué mon étude sur des poussins de chouette effraie (Tyto alba) en condition naturelle, pour rechercher ce lien potentiel entre la variation de la coloration et l'ontogenèse du sommeil. Dans ce but, j'ai établi une méthodologie permettant d'enregistrer l'activité cérébrale (électroencéphalogramme) des chouettes dans la nature. Les oiseaux sont particulièrement intéressants car ils ont développé, par évolution convergente, des phases de sommeil similaires à celles des mammifères. De manière semblable à ce qui a été montré chez les mammifères, j'ai découvert que le temps passé dans le sommeil paradoxal diminue avec l'âge des poussins. On pense que ceci est dû aux changements développementaux au niveau du cerveau. Cette trajectoire développementale semble refléter une caractéristique fondamentale du sommeil. J'ai également découvert une association entre l'un des gènes impliqué dans le mélanisme, exprimé dans les follicules plumeux (proprotein convertase subtilisin/kexin type 2, PCSK2), et les changements dans la structure du sommeil avec l'âge. Les poussins ayant un niveau d'expression génétique élevé de la PCSK2 présentent une structure du sommeil plus précoce et un taux de coloration dû à la mélanine plus élevé que des poussins avec un niveau d'expression moindre de la PCSK2. L'architecture du sommeil et le développement de la rythmicité dans le cerveau ainsi que l'activité physique sont également liés à la coloration des plumes des poussins et pourraient ainsi refléter des différences de stratégies d'histoire de vie, de comportements anti-prédateur et de vitesses développementales. Ainsi, des individus de coloration différente sembleraient traiter différemment les coûts et les bénéfices du sommeil, ce qui aurait des conséquences sur l'organisation cérébrale et pour finir, sur le succès reproducteur. Ces résultats devraient encourager les biologistes évolutionnistes à considérer le sommeil comme un important trait d'histoire de vie. Zusammenfassung Die Funktion von Schlaf ist noch unbekannt. Um mehr Einsicht in diese unter natürlichen Bedingungen zu bekommen, habe ich die Variation in der Schlafarchitektur und die Verknüpfung mit phänotypischen Merkmalen, die mit der Fitness zusammenhängen, studiert. Ich habe mir melanin-basierte Färbung angesehen, da die zugrunde liegende genetische Basis bekannt ist und somit die Möglichkeit gegeben ist, zu untersuchen, ob einige Gene beides regulieren, Färbung und Schlaf. Das melanocortin System generiert eine Kovariation zwischen melanin-basierter Färbung und anderen phänotypischer Merkmale wie Verhalten, Physiologie und Überlebensstrategien. Ich habe untersucht, ob dieses Gensystem an einer gleichzeitigen Steuerung von Färbung und Schlaf beteiligt ist. Dazu habe ich Schleiereulen (Tyto alba) studiert um einen möglichen Zusammenhang zwischen der Variation in der Pigmentierung und der Entwicklung des Schlafs unter natürlichen Bedingungen zu entdecken. Für diese Studie entwickelte ich eine Methode um die Gehirnaktivität (Elektroenzephalogramm) bei Eulen in der Natur aufzunehmen. Vögel sind besonders interessant, da sie die gleichen Schlafstadien aufweisen wie Säugetiere und diese unabhängig konvergent entwickelt haben. Genauso wie bei Säugetieren nahm die Dauer des sogenannten ,,rapid eye movement" (REM) - Schlafes mit zunehmendem Alter ab. Es wird angenommen, dass dieser Zusammenhang die Entwicklung des Gehirns widerspiegelt. Daher scheint dieses Entwicklungsmuster ein fundamentaler Aspekt von Schlaf zu sein. Zusätzlich entdeckte ich einen Zusammenhang zwischen der Aktivität eines Gens in den Federfollikeln (proprotein convertase subtilisin/kexin type 2, PCSK2), das für die Ausprägung schwarzer Punkte auf den Federn der Eulen verantwortlich ist, und den altersabhängigen Änderungen im Schlafmuster im Gehirn. Küken mit höherer Aktivität von PCSK2 zeigten eine frühreifere Schlafentwicklung und eine dunklere Färbung als Küken mit niedriger PCSK2 Aktivität. Die Architekture des Schlafes und die Entwicklung der Rhythmik im Gehirn und die der physischen Aktivität ist mit der Färbung des Gefieders von den Küken und ihren Eltern verknüpft. Dieses Muster während der Entwicklung kann Unterschiede in Überlebensstrategien, Feindabwehrverhalten und in der Entwicklungsgeschwindigkeit reflektieren. Unterschiedlich gefärbte Individuen könnten unterschiedliche Strategien haben um zwischen den Kosten und Nutzen von Schlaf zu entscheiden, was zu Unterschieden in der Gehirnstruktur führen kann und letztendlich zur Fitness. Diese Ergebnisse sollten Evolutionsbiologen stimulieren Schlaf als einen wichtigen Bestandteil des Lebens zu behandeln.

Influence of bedrock structures on the spatial pattern of erosional landforms in small alpine catchments

Structural settings and lithological characteristics are traditionally assumed to influence the development of erosional landforms, such as gully networks and rock couloirs, in steep mountain rock basins. The structural control of erosion of two small alpine catchments of distinctive rock types is evaluated by comparing the correspondences between the orientations of their gullies and rock couloirs with (1) the sliding orientations of potential slope failures mechanisms, and (2) the orientation of the maximum joint frequency, this latter being considered as the direction exploited primarily by erosion and mass wasting processes. These characteristic orientations can be interpreted as structural weaknesses contributing to the initiation and propagation of erosion. The morphostructural analysis was performed using digital elevation models and field observations. The catchment comprised of magmatic intrusive rocks shows a clear structural control, mostly expressed through potential wedges failure. Such joint configurations have a particular geometry that encourages the development of gullies in hard rock, e.g. through enhanced gravitational and hydrological erosional processes. In the catchment underlain by sedimentary rocks, penetrative joints that act as structural weaknesses seem to be exploited by gullies and rock couloirs. However, the lithological setting and bedding configuration prominently control the development of erosional landforms, and influence not only the local pattern of geomorphic features, but the general morphology of the catchment. The orientations of the maximum joint frequency are clearly associated with the gully network, suggesting that its development is governed by anisotropy in rock strength. These two catchments are typical of bedrock-dominated basins prone to intense processes of debris supply. This study suggests a quantitative approach for describing the relationship between bedrock jointing and geomorphic features geometry. Incorporation of bedrock structure can be relevant when studying processes governing the transfer of clastic material, for the assessment of sediment yields and in landforms evolution models.

Mass movement characterization using a reflexion and refraction seismic survey with the sloping local base level concept

This study proposes a new concept for upscaling local information on failure surfaces derived from geophysical data, in order to develop the spatial information and quickly estimate the magnitude and intensity of a landslide. A new vision of seismic interpretation on landslides is also demonstrated by taking into account basic geomorphic information with a numeric method based on the Sloping Local Base Level (SLBL). The SLBL is a generalization of the base level defined in geomorphology applied to landslides, and allows the calculation of the potential geometry of the landslide failure surface. This approach was applied to a large scale landslide formed mainly in gypsum and situated in a former glacial valley along the Rhone within the Western European Alps. Previous studies identified the existence of two sliding surfaces that may continue below the level of the valley. In this study. seismic refraction-reflexion surveys were carried out to verify the existence of these failure surfaces. The analysis of the seismic data provides a four-layer model where three velocity layers (<1000 ms(-1), 1500 ms(-1) and 3000 ms(-1)) are interpreted as the mobilized mass at different weathering levels and compaction. The highest velocity layer (>4000 ms(-1)) with a maximum depth of similar to 58 m is interpreted as the stable anhydrite bedrock. Two failure surfaces were interpreted from the seismic surveys: an upper failure and a much deeper one (respectively 25 and 50 m deep). The upper failure surface depth deduced from geophysics is slightly different from the results obtained using the SLBL, and the deeper failure surface depth calculated with the SLBL method is underestimated in comparison with the geophysical interpretations. Optimal results were therefore obtained by including the seismic data in the SLBL calculations according to the geomorphic limits of the landslide (maximal volume of mobilized mass = 7.5 x 10(6) m(3)).

The influence of drinking pattern, at individual and aggregate levels, on alcohol-related negative consequences.

AIM: To determine the extent drinking patterns (at the individual and country level) are associated with alcohol-related consequences over and above the total alcohol the person consumes. METHODS: Hierarchical linear models were estimated based on general population surveys conducted in 18 countries participating in the GENACIS project. RESULTS: In general, the positive association between drinking pattern scores and alcohol-related consequences was found at both the individual and country levels, independent of volume of drinking. In addition, a significant interaction effect indicated that the more detrimental the country's drinking pattern, the less steep the association between the volume of drinking and its consequences. CONCLUSION: Drinking patterns have an independent impact on consequences over and above the relationship between volume and consequences.

Auto- and allopolyploidy in Centaurea sect. Acrocentron s.l. (Asteraceae, Cardueae): karyotype and chromosome banding pattern analyses

Dysploidy and polyploidy are well documented in the large genus Centaurea, especially in sect. Acrocentron and in a small group of species from the Iberian Peninsula described as sect. Chamaecyanus, closely related to Acrocentron. We have explored two interesting cases of polyploid series in both sections: the polyploid series of Centaurea toletana in sect. Chamaecyanus and the series of C. ornata group in sect. Acrocentron. We have carried out a karyological study using both classic karyotype analyses and chromosome banding with fluorochromes.

Ultrastructure of adhesion and movement of the tetraspores of Gelidium Lamour (Geldiaceae; Rhodophyta)

The outer part of the tetraspora cell wall in Gelidium crinale (Turner) J.V. Lamour. and G. spathulatum (Kutz.) Bornet is morphologically described in relation to the movements and displacement of these spores when they settle on a substratum. We also describe the mechanism of adhesión and the transformations undergone by this mechanism over time. The cell wall shows a network of fibrillar threads embedded in abundant mucilage. The deformations that tetraspores undergo show that the cell wall is relatively elastic.

Human epidermal Langerhans cells express the tight junction protein claudin-1 and are present in human genetic claudin-1 deficiency (NISCH syndrome).

Claudin-1 (CLDN1) is a structural tight junction (TJ) protein and is expressed in differentiating keratinocytes and Langerhans cells in the epidermis. Our objective was to identify immunoreactive CLDN1 in human epidermal Langerhans cells and to examine the pattern of epidermal Langerhans cells in genetic human CLDN1 deficiency [neonatal ichthyosis, sclerosing cholangitis (NISCH) syndrome]. Epidermal cells from healthy human skin labelled with CLDN1-specific antibodies were analysed by confocal laser immunofluorescence microscopy and flow cytometry. Skin biopsy sections of two patients with NISCH syndrome were stained with an antibody to CD1a expressed on epidermal Langerhans cells. Epidermal Langerhans cells and a subpopulation of keratinocytes from healthy skin were positive for CLDN1. The gross number and distribution of epidermal Langerhans cells of two patients with molecularly confirmed NISCH syndrome, however, was not grossly altered. Therefore, CLDN1 is unlikely to play a critical role in migration of Langerhans cells (or their precursors) to the epidermis or their positioning within the epidermis. Our findings do not exclude a role of this TJ molecule once Langerhans cells have left the epidermis for draining lymph nodes.

Instrumentation and Monitoring of Precast Bridge Approach Tied to an Integral Abutment Bridge in Bremer County, SPR 0000-005, 2010

Approach slab pavement at integral abutment (I-A) bridges are prone to settlement and cracking, which has been long recognized by the Iowa Department of Transportation (DOT). A commonly recommended solution is to integrally attach the approach slab to the bridge abutment. This study sought to supplement a previous project by instrumenting, monitoring, and analyzing the behavior of an approach slab tied to a integral abutment bridge. The primary objective of this investigation was to evaluate the performance of the approach slab. To satisfy the research needs, the project scope involved reviewing a similar previous study, implementing a health monitoring system on the approach slab, interpreting the data obtained during the evaluation, and conducting periodic visual inspections of the bridge and approach slab. Based on the information obtained from the testing, the following general conclusions were made: the integral connection between the approach slab and the bridge appears to function well with no observed distress at this location and no relative longitudinal movement measured between the two components; the measured strains in the approach slabs indicate a force exists at the expansion joint and should be taken into consideration when designing both the approach slab and the bridge and the observed responses generally followed an annual cyclic and/or short term cyclic pattern over time; the expansion joint at one side of the approach slab does not appear to be functioning as well as elsewhere; much larger frictional forces were observed in this study compared to the previous study.