3,650 research outputs found
Bubble concentration on spheres for supercritical elliptic problems
We consider the supercritical Lane-Emden problem (P_\eps)\qquad
-\Delta v= |v|^{p_\eps-1} v \ \hbox{in}\ \mathcal{A} ,\quad u=0\ \hbox{on}\
\partial\mathcal{A}
where is an annulus in \rr^{2m}, and
p_\eps={(m+1)+2\over(m+1)-2}-\eps, \eps>0.
We prove the existence of positive and sign changing solutions of (P_\eps)
concentrating and blowing-up, as \eps\to0, on dimensional spheres.
Using a reduction method (see Ruf-Srikanth (2010) J. Eur. Math. Soc. and
Pacella-Srikanth (2012) arXiv:1210.0782)we transform problem (P_\eps) into a
nonhomogeneous problem in an annulus \mathcal D\subset \rr^{m+1} which can be
solved by a Ljapunov-Schmidt finite dimensional reduction
Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report
<p>Abstract</p> <p>Introduction</p> <p>Chromosomal aberrations of chromosome 16 are uncommon and submicroscopic deletions have rarely been reported. At present, a cytogenetic or molecular abnormality can only be detected in 55% of Rubinstein-Taybi syndrome patients, leaving the diagnosis in 45% of patients to rest on clinical features only. Interestingly, this microdeletion of 16 p13.3 was found in a young child with an unexplained syndromic condition due to an indistinct etiological diagnosis. To the best of our knowledge, no evidence of a microdeletion of 16 p13.3 with contiguous gene deletion, comprising cyclic adenosine monophosphate-response element-binding protein and tumor necrosis factor receptor-associated protein 1 genes, has been described in typical Rubinstein-Taybi syndrome.</p> <p>Case presentation</p> <p>We present the case of a three-year-old Malaysian Chinese girl with a <it>de novo </it>microdeletion on the short arm of chromosome 16, identified by oligonucleotide array-based comparative genomic hybridization. Our patient showed mild to moderate global developmental delay, facial dysmorphism, bilateral broad thumbs and great toes, a moderate size atrial septal defect, hypotonia and feeding difficulties. A routine chromosome analysis on 20 metaphase cells showed a normal 46, XX karyotype. Further investigation by high resolution array-based comparative genomic hybridization revealed a 120 kb microdeletion on chromosomal band 16 p13.3.</p> <p>Conclusion</p> <p>A mutation or abnormality in the cyclic adenosine monophosphate-response element-binding protein has previously been determined as a cause of Rubinstein-Taybi syndrome. However, microdeletion of 16 p13.3 comprising cyclic adenosine monophosphate-response element-binding protein and tumor necrosis factor receptor-associated protein 1 genes is a rare scenario in the pathogenesis of Rubinstein-Taybi syndrome. Additionally, due to insufficient coverage of the human genome by conventional techniques, clinically significant genomic imbalances may be undetected in unexplained syndromic conditions of young children. This case report demonstrates the ability of array-based comparative genomic hybridization to offer a genome-wide analysis at high resolution and provide information directly linked to the physical and genetic maps of the human genome. This will contribute to more accurate genetic counseling and provide further insight into the syndrome.</p
Lorentz angle measurements in irradiated silicon detectors between 77 K and 300 K
Future experiments are using silicon detectors in a high radiation
environment and in high magnetic fields. The radiation tolerance of silicon
improves by cooling it to temperatures below 180 K. At low temperatures the
mobility increases, which leads to larger deflections of the charge carriers by
the Lorentz force. A good knowledge of the Lorentz angle is needed for design
and operation of silicon detectors. We present measurements of the Lorentz
angle between 77 K and 300 K before and after irradiation with a primary beam
of 21 MeV protons.Comment: 13 pages, 9 figures, submitted to ICHEP2000, Osaka, Japa
Cyclotron-resonant exciton transfer between the nearly free and strongly localized radiative states of a two-dimensional hole gas in a high magnetic field
Avoided crossing of the emission lines of a nearly free positive trion and a
cyclotron replica of an exciton bound to an interface acceptor has been
observed in the magneto-photoluminescence spectra of p-doped GaAs quantum
wells. Identification of the localized state depended on the precise mapping of
the anti-crossing pattern. The underlying coupling is caused by an exciton
transfer combined with a resonant cyclotron excitation of an additional hole.
The emission spectrum of the resulting magnetically tunable coherent state
probes weak localization in the quantum well.Comment: 5 pages, 5 figure
Glasslike Arrest in Spinodal Decomposition as a Route to Colloidal Gelation
Colloid-polymer mixtures can undergo spinodal decomposition into colloid-rich
and colloid-poor regions. Gelation results when interconnected colloid-rich
regions solidify. We show that this occurs when these regions undergo a glass
transition, leading to dynamic arrest of the spinodal decomposition. The
characteristic length scale of the gel decreases with increasing quench depth,
and the nonergodicity parameter exhibits a pronounced dependence on scattering
vector. Mode coupling theory gives a good description of the dynamics, provided
we use the full static structure as input.Comment: 14 pages, 4 figures; replaced with published versio
On the symmetry of minimizers
For a large class of variational problems we prove that minimizers are
symmetric whenever they are .Comment: 17 pages, to appear in Arch. Rational Mech. Anal.; added Example 7
and some reference
Shear stresses of colloidal dispersions at the glass transition in equilibrium and in flow
We consider a model dense colloidal dispersion at the glass transition, and
investigate the connection between equilibrium stress fluctuations, seen in
linear shear moduli, and the shear stresses under strong flow conditions far
from equilibrium, viz. flow curves for finite shear rates. To this purpose
thermosensitive core-shell particles consisting of a polystyrene core and a
crosslinked poly(N-isopropylacrylamide)(PNIPAM) shell were synthesized. Data
over an extended range in shear rates and frequencies are compared to
theoretical results from integrations through transients and mode coupling
approaches. The connection between non-linear rheology and glass transition is
clarified. While the theoretical models semi-quantitatively fit the data taken
in fluid states and the predominant elastic response of glass, a yet
unaccounted dissipative mechanism is identified in glassy states.Comment: 17 pages, 11 figures; J. Chem. Phys. in print (2008
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
BACKGROUND: Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors. RSTS is caused by chromosomal rearrangements and point mutations in one copy of the CREB-binding protein gene (CREBBP or CBP) in 16p13.3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions. METHODS: Our study is based on the mutation analysis of CREBBP in 31 Italian RSTS patients using segregation analysis of intragenic microsatellites, BAC FISH and direct sequencing of PCR and RT-PCR fragments. RESULTS: We identified a total of five deletions, two of the entire gene and three, all in a mosaic condition, involving either the 5' or the 3' region. By direct sequencing a total of 14 de novo mutations were identified: 10 truncating (5 frameshift and 5 nonsense), one splice site, and three novel missense mutations. Two of the latter affect the HAT domain, while one maps within the conserved nuclear receptor binding of (aa 1â170) and will probably destroy a Nuclear Localization Signal. Identification of the p.Asn1978Ser in the healthy mother of a patient also carrying a de novo frameshift mutation, questions the pathogenetic significance of the missense change reported as recurrent mutation. Thirteen additional polymorphisms, three as of yet unreported, were also detected. CONCLUSION: A high detection rate (61.3%) of mutations is confirmed by this Italian study which also attests one of the highest microdeletion rate (16%) documented so far
Lorentz angle measurements in irradiated silicon detectors between 77 K and 300 K
Future experiments are using silicon detectors in a high
radiation environment and in high magnetic fields. The radiation
tolerance of silicon improves by cooling it to temperatures
below 180 K. At low temperatures the mobility increases, which
leads to larger de of the charge carriers by the Lorentz force.
A good knowledge of the Lorentz angle is needed for design and
operation of silicon detectors. We present measurements of the
Lorentz angle between 77 K and 300 K before and after
irradiation with a primary beam of 21 MeV protons
Fast relaxation in a fragile liquid under pressure
The incoherent dynamic structure factor of ortho-terphenyl has been measured
by neutron time-of-flight and backscattering technique in the pressure range
from 0.1 MPa to 240 MPa for temperatures between 301 K and 335 K.
Tagged-particle correlations in the compressed liquid decay in two steps. The
alpha-relaxation lineshape is independent of pressure, and the relaxation time
proportional to viscosity. A kink in the amplitude f_Q(P) reveals the onset of
beta relaxation. The beta-relaxation regime can be described by the
mode-coupling scaling function; amplitudes and time scales allow a consistent
determination of the critical pressure P_c(T). alpha and beta relaxation depend
in the same way on the thermodynamic state; close to the mode-coupling
cross-over, this dependence can be parametrised by an effective coupling Gamma
~ n*T**{-1/4}.Comment: 4 Pages of RevTeX, 4 figures (submitted to Physical Review Letters
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