1,361 research outputs found
Pfeiffer syndrome
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia
Anomalous structure in the single particle spectrum of the fractional quantum Hall effect
The two-dimensional electron system (2DES) is a unique laboratory for the
physics of interacting particles. Application of a large magnetic field
produces massively degenerate quantum levels known as Landau levels. Within a
Landau level the kinetic energy of the electrons is suppressed, and
electron-electron interactions set the only energy scale. Coulomb interactions
break the degeneracy of the Landau levels and can cause the electrons to order
into complex ground states. In the high energy single particle spectrum of this
system, we observe salient and unexpected structure that extends across a wide
range of Landau level filling fractions. The structure appears only when the
2DES is cooled to very low temperature, indicating that it arises from delicate
ground state correlations. We characterize this structure by its evolution with
changing electron density and applied magnetic field. We present two possible
models for understanding these observations. Some of the energies of the
features agree qualitatively with what might be expected for composite
Fermions, which have proven effective for interpreting other experiments in
this regime. At the same time, a simple model with electrons localized on
ordered lattice sites also generates structure similar to those observed in the
experiment. Neither of these models alone is sufficient to explain the
observations across the entire range of densities measured. The discovery of
this unexpected prominent structure in the single particle spectrum of an
otherwise thoroughly studied system suggests that there exist core features of
the 2DES that have yet to be understood.Comment: 15 pages, 10 figure
Evidence for a fractional quantum Hall state with anisotropic longitudinal transport
At high magnetic fields, where the Fermi level lies in the N=0 lowest Landau
level (LL), a clean two-dimensional electron system (2DES) exhibits numerous
incompressible liquid phases which display the fractional quantized Hall effect
(FQHE) (Das Sarma and Pinczuk, 1997). These liquid phases do not break
rotational symmetry, exhibiting resistivities which are isotropic in the plane.
In contrast, at lower fields, when the Fermi level lies in the third
and several higher LLs, the 2DES displays a distinctly different class of
collective states. In particular, near half filling of these high LLs the 2DES
exhibits a strongly anisotropic longitudinal resistance at low temperatures
(Lilly et al., 1999; Du et al., 1999). These "stripe" phases, which do not
exhibit the quantized Hall effect, resemble nematic liquid crystals, possessing
broken rotational symmetry and orientational order (Koulakov et al., 1996;
Fogler et al., 1996; Moessner and Chalker, 1996; Fradkin and Kivelson, 1999;
Fradkin et al, 2010). Here we report a surprising new observation: An
electronic configuration in the N=1 second LL whose resistivity tensor
simultaneously displays a robust fractionally quantized Hall plateau and a
strongly anisotropic longitudinal resistance resembling that of the stripe
phases.Comment: Nature Physics, (2011
Isoetes pedersenii, a new species from Southern South America
The name Isoetes pedersenii H.P. Fuchs (Lycophyta), a species known only from the Mburucuyá National Park, Corrientes, Argentina, is validated. Observations were carried out on herbarium material with stereoscopic, light and scanning electron microscopes. The species is described and typified. A diagnosis and discussion about its distribution and its relationship with the morphology of other species of Isoetes are provided.O nome Isoetes pedersenii H.P. Fuchs (Lycophyta) foi validado para a espécie identificada apenas no Parque Nacional de Mburucuyá, em Corrientes na Argentina. Material preservado em herbário foi avaliado com microscópios estereoscó pico, de luz branca e eletrônico de varredura. A espécie foi descrita e tipificada. Um diagnóstico e uma discussão sobre a distribuição e relação com a morfologia de outras espécies de Isoetes são relatados
Melting of a 2D Quantum Electron Solid in High Magnetic Field
The melting temperature () of a solid is generally determined by the
pressure applied to it, or indirectly by its density () through the equation
of state. This remains true even for helium solids\cite{wilk:67}, where quantum
effects often lead to unusual properties\cite{ekim:04}. In this letter we
present experimental evidence to show that for a two dimensional (2D) solid
formed by electrons in a semiconductor sample under a strong perpendicular
magnetic field\cite{shay:97} (), the is not controlled by , but
effectively by the \textit{quantum correlation} between the electrons through
the Landau level filling factor =. Such melting behavior, different
from that of all other known solids (including a classical 2D electron solid at
zero magnetic field\cite{grim:79}), attests to the quantum nature of the
magnetic field induced electron solid. Moreover, we found the to increase
with the strength of the sample-dependent disorder that pins the electron
solid.Comment: Some typos corrected and 2 references added. Final version with minor
editoriol revisions published in Nature Physic
Intraocular pressure and ocular pulse amplitude using dynamic contour tonometry and contact lens tonometry
BACKGROUND: The new Ocular Dynamic Contour Tonometer (DCT), investigational device supplied by SMT (Swiss Microtechnology AG, Switzerland) allows simultaneous recording of intraocular pressure (IOP) and ocular pulse amplitude (OPA). It was the aim of this study to compare the IOP results of this new device with Goldmann tonometry. Furthermore, IOP and OPA measured with the new slitlamp-mounted DCT were compared to the IOP and OPA measured with the hand-held SmartLens(®), a gonioscopic contact lens tonometer (ODC Ophthalmic Development Company AG, Switzerland). METHODS: Nineteen healthy subjects were included in this study. IOP was determined by three consecutive measurements with each of the DCT, SmartLens(®), and Goldmann tonometer. Furthermore, OPA was measured three times consecutively by DCT and SmartLens(®). RESULTS: No difference (P = 0.09) was found between the IOP values by means of DCT (mean: 16.6 mm Hg, median: 15.33 mm Hg, SD: +/- 4.04 mm Hg) and Goldmann tonometry (mean: 16.17 mm Hg, median: 15.33 mm Hg, SD: +/- 4.03 mm Hg). The IOP values of SmartLens(® )(mean: 20.25 mm Hg, median: 19.00 mm Hg, SD: +/- 4.96 mm Hg) were significantly higher (P = 0.0008) both from Goldmann tonometry and DCT. The OPA values of the DCT (mean: 3.08 mm Hg, SD: +/- 0.92 mm Hg) were significantly lower (P = 0.0003) than those obtained by SmartLens(® )(mean: 3.92 mm Hg, SD: +/- 0.83 mm Hg). CONCLUSIONS: DCT was equivalent to Goldmann applanation tonometry in measurement of IOP in a small group of normal subjects. In contrast, SmartLens(® )(contact lens tonometry) gave IOP readings that were significantly higher compared with Goldmann applanation tonometer readings. Both devices, DCT and SmartLens(® )provide the measurement of OPA which could be helpful e.g. for the management of glaucoma
The integrated care pathway reduced the number of hospital days by half: a prospective comparative study of patients with acute hip fracture
BACKGROUND: The incidence of hip fracture is expected to increase during the coming years, demanding greater resources and improved effectiveness on this group of patients. The aim of the present study was to evaluate the effectiveness of an integrated care pathway (ICP) in patients with an acute fracture of the hip. METHODS: A nonrandomized prospective study comparing a consecutive series of patients treated by the conventional pathway to a newer intervention. 112 independently living patients aged 65 years or older admitted to the hospital with a hip fracture were consecutively selected. Exclusion criteria were pathological fracture and severe cognitive impairment. An ICP was developed with the intention of creating a care path with rapid pre-operative attention, increased continuity and an accelerated training programme based on the individual patient's prerequisites and was used as a guidance for each patient's tailored care in the intervention group (N = 56) The main outcome measure was the length of hospital stay. Secondary outcomes were the amount of time from the emergency room to the ward, to surgery and to first ambulation, as well as in-hospital complications and 30-day readmission rate. RESULTS: The intervention group had a significantly shorter length of hospital stay (12.2 vs. 26.3 days; p < 0.000), a shorter time to first ambulation (41 vs. 49 h; p = 0.01), fewer pressure wounds (8 vs. 19; p = 0.02) and medical complications (5 vs. 14; p = 0.003) than the comparison group. No readmissions occurred within 30 days post-intervention in either group. CONCLUSION: Implementing an ICP for patients with a hip fracture was found to significantly reduce the length of hospital stay and improve the quality of care
Evolutionary and pulsational properties of white dwarf stars
Abridged. White dwarf stars are the final evolutionary stage of the vast
majority of stars, including our Sun. The study of white dwarfs has potential
applications to different fields of astrophysics. In particular, they can be
used as independent reliable cosmic clocks, and can also provide valuable
information about the fundamental parameters of a wide variety of stellar
populations, like our Galaxy and open and globular clusters. In addition, the
high densities and temperatures characterizing white dwarfs allow to use these
stars as cosmic laboratories for studying physical processes under extreme
conditions that cannot be achieved in terrestrial laboratories. They can be
used to constrain fundamental properties of elementary particles such as axions
and neutrinos, and to study problems related to the variation of fundamental
constants.
In this work, we review the essentials of the physics of white dwarf stars.
Special emphasis is placed on the physical processes that lead to the formation
of white dwarfs as well as on the different energy sources and processes
responsible for chemical abundance changes that occur along their evolution.
Moreover, in the course of their lives, white dwarfs cross different
pulsational instability strips. The existence of these instability strips
provides astronomers with an unique opportunity to peer into their internal
structure that would otherwise remain hidden from observers. We will show that
this allows to measure with unprecedented precision the stellar masses and to
infer their envelope thicknesses, to probe the core chemical stratification,
and to detect rotation rates and magnetic fields. Consequently, in this work,
we also review the pulsational properties of white dwarfs and the most recent
applications of white dwarf asteroseismology.Comment: 85 pages, 28 figures. To be published in The Astronomy and
Astrophysics Revie
Reversed-phase liquid chromatography coupled on-line to estrogen receptor bioaffinity detection based on fluorescence polarization
We describe the development and validation of a high-resolution screening (HRS) platform which couples gradient reversed-phase high-performance liquid chromatography (RP-HPLC) on-line to estrogen receptor α (ERα) affinity detection using fluorescence polarization (FP). FP, which allows detection at high wavelengths, limits the occurrence of interference from the autofluorescence of test compounds in the bioassay. A fluorescein-labeled estradiol derivative (E2-F) was synthesized and a binding assay was optimized in platereader format. After subsequent optimization in flow-injection analysis (FIA) mode, the optimized parameters were translated to the on-line HRS bioassay. Proof of principle was demonstrated by separating a mixture of five compounds known to be estrogenic (17β-estradiol, 17α-ethinylestradiol and the phytoestrogens coumestrol, coumarol and zearalenone), followed by post-column bioaffinity screening of the individual affinities for ERα. Using the HRS-based FP setup, we were able to screen affinities of off-line-generated metabolites of zearalenone for ERα. It is concluded that the on-line FP-based bioassay can be used to screen for the affinity of compounds without the disturbing occurrence of autofluorescence
Spatial Distribution and Risk Factors of Highly Pathogenic Avian Influenza (HPAI) H5N1 in China
Highly pathogenic avian influenza (HPAI) H5N1 was first encountered in 1996 in Guangdong province (China) and started spreading throughout Asia and the western Palearctic in 2004–2006. Compared to several other countries where the HPAI H5N1 distribution has been studied in some detail, little is known about the environmental correlates of the HPAI H5N1 distribution in China. HPAI H5N1 clinical disease outbreaks, and HPAI virus (HPAIV) H5N1 isolated from active risk-based surveillance sampling of domestic poultry (referred to as HPAIV H5N1 surveillance positives in this manuscript) were modeled separately using seven risk variables: chicken, domestic waterfowl population density, proportion of land covered by rice or surface water, cropping intensity, elevation, and human population density. We used bootstrapped logistic regression and boosted regression trees (BRT) with cross-validation to identify the weight of each variable, to assess the predictive power of the models, and to map the distribution of HPAI H5N1 risk. HPAI H5N1 clinical disease outbreak occurrence in domestic poultry was mainly associated with chicken density, human population density, and elevation. In contrast, HPAIV H5N1 infection identified by risk-based surveillance was associated with domestic waterfowl density, human population density, and the proportion of land covered by surface water. Both models had a high explanatory power (mean AUC ranging from 0.864 to 0.967). The map of HPAIV H5N1 risk distribution based on active surveillance data emphasized areas south of the Yangtze River, while the distribution of reported outbreak risk extended further North, where the density of poultry and humans is higher. We quantified the statistical association between HPAI H5N1 outbreak, HPAIV distribution and post-vaccination levels of seropositivity (percentage of effective post-vaccination seroconversion in vaccinated birds) and found that provinces with either outbreaks or HPAIV H5N1 surveillance positives in 2007–2009 appeared to have had lower antibody response to vaccination. The distribution of HPAI H5N1 risk in China appears more limited geographically than previously assessed, offering prospects for better targeted surveillance and control interventions
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