A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 174 probands referred for GLI3 analysis. Eighty-one probands with typical GCPS or PHS were previously reported, and we report the remaining 93 probands

We report on the versatile design and operation of a two-sided spectrometer for the imaging of charged-particle momenta in two dimensions (2D) and three dimensions (3D). The benefits of 3D detection are to discern particles of different mass and to study correlations between fragments from multi-ionization processes, while 2D detectors are more efficient for single-ionization applications. Combini

The aim of this study was to study long-term outcome of physical health and self-injurious behaviour (SIB) in anorexia nervosa (AN). Fifty-one adolescent-onset AN cases, originally recruited after community screening, and 51 matched controls (COMP) were interviewed regarding somatic problems and SIB and physically examined 18 years after AN onset, at mean age 32 years. Six individuals had an eatin

This study investigated the human gastrointestinal uptake (f1) and subsequent whole-body retention of orally administered inorganic radioactive cobalt. Of eight adult volunteers aged between 24 and 68 years, seven were given solutions of (57)Co (T1/2 = 272 d) containing a stable cobalt carrier, and six were given carrier-free (58)Co (T1/2 = 71 d). The administered activities ranged between 25 and

Much of the technology in advanced diesel engines, such as high injection pressures, is aimed at overcoming the short ignition delay of conventional diesel fuels to promote premixed combustion in order to reduce NOx and smoke. Previous work in a 2 l single-cylinder diesel engine with a compression ratio of 14 has demonstrated that gasoline fuel, because of its high ignition delay, is very benefici

Collective conventions play a significant role in resource consumption, in particular habitual, inconspicuous consumption ingrained in daily practices. To embed pro-environmental default practices in everyday life, an understanding of materiality, habits and cultural context is useful. Household rituals consume environmentally critical resources; laundry provides an example of this phenomenon, cle

This study addresses polymer surfactant interactions at solid liquid interfaces and how these can be manipulated by modulating the association between ionic surfactant and oppositely charged polymer, with a particular focus on electrostatic interactions. For this purpose, the interaction of a series of cationic copolymers of vinylpyrrolidone and quaternized vinylimidazol with sodium dodecyl sulfat

We present a combined core-level spectroscopy and low-energy electron diffraction study of the evolution of thin CuI layers on graphene/Ni(111) during annealing. It has been found that the annealing of the CuI/graphene/Ni(111) system up to 160 degrees C results in the formation of an ordered CuI overlayer with a (root 3 x root 3) R30 degrees structure on top of the graphene surface. At annealing t

Non-typeable Haemophilus influenzae (NTHi) is a common pathogen associated with diseases such as acute otitis media or exacerbations in patients with chronic obstructive pulmonary disease. The biofilm-forming capability substantially contributes to the persistence of NTHi. However, the regulation of biofilm formation is not completely understood. Quorum sensing regulated by autoinducer-2 produced

The Wenlock Epoch of the Silurian Period has become one of the chronostratigraphically best-constrained intervals of the Paleozoic. The integration of multiple chronostratigraphic tools, such as conodont and graptolite biostratigraphy, sequence stratigraphy, and delta C-13(carb) chemostratigraphy, has greatly improved global chronostratigraphic correlation and portions of the Wenlock can now be co

CD8+ T cell exhaustion represents a major hallmark of chronic HIV infection. Two key transcription factors governing CD8+ T cell differentiation, T-bet and Eomesodermin (Eomes), have previously been shown in mice to differentially regulate T cell exhaustion in part through direct modulation of PD-1. Here, we examined the relationship between these transcription factors and the expression of severa

The objective of this analysis was to compare three methods of handling HIV-RNA data below the limit of quantification (LOQ) when describing the time-course of antiretroviral drug response using a drug-disease model. Treatment naive Scandinavian HIV-positive patients (n = 242) were randomized to one of three study arms. Two nucleoside reverse transcriptase inhibitors were administrated in combinat

Brattforsheden is a large glacifluvial deposit in southwestern Sweden and associated with it is one of Sweden's largest inland dune fields. Although the relative ages of the Brattforsheden deposits are well known, absolute ages from the area are few. In this study we have used optically stimulated luminescence (OSL), surface exposure (Be-10) and radiocarbon (C-14) dating to provide an absolute chr

The levels of heavy metals in surface water and their potential origin (natural and anthropogenic) were respectively determined and analysed for the Obuasi mining area in Ghana. Using Hawth's tool an extension in ArcGIS 9.2 software, a total of 48 water sample points in Obuasi and its environs were randomly selected for study. The magnitude of As, Cu, Mn, Fe, Pb, Hg, Zn and Cd in surface water fro

To explore the impact of the sociocultural care and service context on dependence in instrumental activities of daily living, data were collected with 1448 very old women in 5 European countries. In addition, the influence of socioeconomic indicators was explored, using descriptive statistics and regression analyses. Highly significant differences concerning formal/informal support and use of mobi

In this paper, we study the performance of precoding schemes for cooperative transmission of multiple coherent base stations (BSs) that allow for overlapped clustering in a measured urban macrocellular environment at 2.66 GHz, in order to verify previous findings obtained by using simulated channel data. The evaluated precoding schemes include zero-forcing (ZF), layered virtual signal-to-interfere

Underdrawings and pentimenti-typically revealed through x-ray imaging and infrared reflectography-comprise important evidence about the intermediate states of an artwork and thus the working methods of its creator.(1) To this end, Shahram, Stork and Donoho introduced the De-pict algorithm, which recovers layers of brush strokes in paintings with open brush work where several layers are partially v

During sexual conflict, males and females are expected to evolve traits and behaviours with a sexually antagonistic function. Recently, sexually antagonistic coevolution was proposed to occur between male and female diving beetles (Dytiscidae). Male diving beetles possess numerous suction cups on their forelegs whereas females commonly have rough structures on their elytra. These rough structures

BACKGROUND: Recently, a leveling off in hip-fracture incidence has been reported in several settings, but the annual number is nonetheless predicted to increase due to the growing elderly population. METHODS: Using Swedish national data for 1987-2002 for all inpatients 50 years or older, we examined the annual number and incidence of hip fractures and explored age, period, and cohort effects. Ag

BACKGROUND: Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations in the high-risk susceptibility genes BRCA1 and BRCA2. The base excision repair (BER) pathway could be particularly interesting given the relation of synthetic lethality that exists between one of the components of the pathway, PARP1,