3,049 research outputs found
The Two-Spectra Inverse Problem for Semi-Infinite Jacobi Matrices in The Limit-Circle Case
We present a technique for reconstructing a semi-infinite Jacobi operator in
the limit circle case from the spectra of two different self-adjoint
extensions. Moreover, we give necessary and sufficient conditions for two real
sequences to be the spectra of two different self-adjoint extensions of a
Jacobi operator in the limit circle case.Comment: 26 pages. Changes in the presentation of some result
Interstitial deletion 15q21 and Prader-Willi like syndrome phenotype: Case report
Introduction: Chromosome 15q interstitial deletions not involving the Prader-Willi/Angelman region are uncommon and poorly characterized. Very few cases of different segmental losses involving the 15q21 region have been reported at cytogenetic level. All the described patients present with moderate to several mental retardation and characteristic facial dysmorphic features. Some authors compare the similarity between the phenotype of these patients with some features of Prader-Willi syndrome (PWS).
Methods: We report the case of a girl aged 8 referred for conventional cytogenetics and fluorescence in situ hybridization (FISH) for the PWS region, presenting with mental retardation, almond-shaped eyes, obesity, small hands with short fingers and diminished pigmentation of the hair.
Results: The chromosomal analysis revealed an interstitial deletion of the long arm of chromosome 15, apparently between 15q21 and 15q22. Deletion at 15q11.2 (Prader-Willi/Angelman critical region) was excluded by FISH.
To establish the exact breakpoints molecular studies were performed using bacterial artificial chromosome (BAC) clones spanning the 15q21.3 region. The absence of signal in this region defines the proband’s final karyotype as:
46,XX,del(15)(q21.3q21.3).ish del(15)(q21.3q21.3)(bA74K1-)
Discussion: The authors emphasize the importance of complementary FISH and molecular studies in chromosomal abnormalities and compare the proband’s phenotype with similar cases described in the literature
Clinical, cytogenetic and molecular findings of a “de novo” inv dup del (6q)
Introduction: Complex rearrangements resulting in inverted duplications contiguous to a terminal deletion (inv dup del) were first reported for the short arm of chromosome 8 in1976. Since then this type of structural anomaly has been described for an increasing number of chromosomes. In these rearrangements, the concomitant presence of a deletion and a duplication has important consequences in genotype-phenotype correlations. The authors describe the clinical findings and the cytogenetic characterization of a rare inv dup del involving the long arm of chromosome 6.
Material and methods: A girl aged 5 was referred for subtelomeric studies with the indication of psychomotor retardation, autistic features and stereotipies. Chromosome analysis with high resolution GTL-banding was performed on metaphases obtained from cultured peripheral blood lymphocytes. Molecular studies included MLPA (Kits P036 and P070, MRC-Holland), FISH with subtelomeric and whole chromosome painting probes specific for chromosome 6, and cCGH techniques.
Results: Initial MLPA studies detected a subtelomeric deletion in the long arm of chromosome 6; the subsequent karyotype revealed a structurally abnormal chromosome 6 with additional material in the end of the long arm. FISH analysis showed the deletion and demonstrated that the extra material was derived from chromosome 6; cCGH tecnhiques defined the extension and confirmed the breakpoints of the duplicated segment. Thus this rearrangement was interpreted as an inv dup del (6q). Since parental karyotypes were normal, this anomaly was considered “de novo”.
Discussion: As far as we know this is the first description of a patient presenting with a “de novo” inv dup del (6q). We compare the clinical features in this child with the previously reported cases with either an isolated terminal deletion or a duplication of distal 6q. The authors enhance the importance of the combination of high resolution banding with molecular studies in the characterization of this rare rearrangement
Diagnóstico Pré-natal de Síndrome de Wolf-Hirschhorn: a propósito de um caso
Introdução:
O Síndrome de Wolf-Hirschhorn é uma patologia originada por uma deleção da região terminal do braço curto do cromossoma 4. O tamanho da deleção pode ser variável levando a um espectro alargado de manifestações clínicas. Em diagnóstico pré-natal (DPN), as alterações fetais mais frequentes incluem atraso do crescimento intra-uterino, lábio leporino e/ou fenda do palato e anomalias cardíacas. A prevalência estimada é de 1/50.000 nascimentos afetando duas vezes mais indivíduos do sexo feminino do que do sexo masculino.
Objectivo:
Apresentação de um caso de Síndrome de Wolf-Hirschhorn em DPN comparando-o com outros casos publicados.
Material e métodos:
Grávida com 17semanas de gestação, referenciada para estudos cromossómicos por idade materna avançada (35 anos) e rastreio bioquímico positivo para trissomia 18. A análise citogenética convencional dos amniócitos cultivados foi realizada de acordo com os métodos habituais usando bandas GTG. O estudo foi complementado por técnicas de citogenética molecular (FISH) utilizando-se a sonda específica para a região do Síndrome de Wolf-Hirschhorn.
Resultados:
O estudo cromossómico efetuado, revelou uma deleção na região terminal do braço curto do cromossoma 4. A análise por FISH confirmou a existência da deleção desta região, permitindo estabelecer o cariótipo 46,XX,del(4)(p15.3).ish del(4)(p16.3p16.3)(WCHR-).
Os cariótipos efetuados aos pais foram normais.
Conclusões:
Discute-se a importância deste caso pela raridade da anomalia citogenética encontrada, assim como pela dificuldade em realizar o diagnóstico por citogenética convencional, em alguns destes casos, quando não se obtêm bandas de alta resolução
A focal plane detector design for a wide-band Laue-lens telescope
The energy range above 60 keV is important for the study of many open
problems in high energy astrophysics such as the role of Inverse Compton with
respect to synchrotron or thermal processes in GRBs, non thermal mechanisms in
SNR, the study of the high energy cut-offs in AGN spectra, and the detection of
nuclear and annihilation lines. Recently the development of high energy Laue
lenses with broad energy bandpasses from 60 to 600 keV have been proposed for a
Hard X ray focusing Telescope (HAXTEL) in order to study the X-ray continuum of
celestial sources. The required focal plane detector should have high detection
efficiency over the entire operative range, a spatial resolution of about 1 mm,
an energy resolution of a few keV at 500 keV and a sensitivity to linear
polarization. We describe a possible configuration of the focal plane detector
based on several CdTe/CZT pixelated layers stacked together to achieve the
required detection efficiency at high energy. Each layer can operate both as a
separate position sensitive detector and polarimeter or work with other layers
to increase the overall photopeak efficiency. Each layer has a hexagonal shape
in order to minimize the detector surface required to cover the lens field of
view. The pixels would have the same geometry so as to provide the best
coupling with the lens point spread function and to increase the symmetry for
polarimetric studies.Comment: 10 pages, 9 figure
Spin separation in digital ferromagnetic heterostructures
In a study of the ferromagnetic phase of a multilayer digital ferromagnetic
semiconductor in the mean-field and effective-mass approximations, we find the
exchange interaction to have the dominant energy scale of the problem,
effectively controlling the spatial distribution of the carrier spins in the
digital ferromagnetic heterostructures. In the ferromagnetic phase, the
majority and minority carriers tend to be in different regions of the space
(spin separation). Hence, the charge distribution of carriers also changes
noticeably from the ferromagnetic to the paramagnetic phase. An example of a
design to exploit these phenomena is given.Comment: 4 pages, 3 figures. Submitted to Phys. Rev.
Fast photon detection for the COMPASS RICH detector
The COMPASS experiment at the SPS accelerator at CERN uses a large scale Ring
Imaging CHerenkov detector (RICH) to identify pions, kaons and protons in a
wide momentum range. For the data taking in 2006, the COMPASS RICH has been
upgraded in the central photon detection area (25% of the surface) with a new
technology to detect Cherenkov photons at very high count rates of several 10^6
per second and channel and a new dead-time free read-out system, which allows
trigger rates up to 100 kHz. The Cherenkov photons are detected by an array of
576 visible and ultra-violet sensitive multi-anode photomultipliers with 16
channels each. The upgraded detector showed an excellent performance during the
2006 data taking.Comment: Proceeding of the IPRD06 conference (Siena, Okt. 06
The Fast Read-out System for the MAPMTs of COMPASS RICH-1
A fast readout system for the upgrade of the COMPASS RICH detector has been
developed and successfully used for data taking in 2006 and 2007. The new
readout system for the multi-anode PMTs in the central part of the photon
detector of the RICH is based on the high-sensitivity MAD4
preamplifier-discriminator and the dead-time free F1-TDC chip characterized by
high-resolution. The readout electronics has been designed taking into account
the high photon flux in the central part of the detector and the requirement to
run at high trigger rates of up to 100 kHz with negligible dead-time. The
system is designed as a very compact setup and is mounted directly behind the
multi-anode photomultipliers. The data are digitized on the frontend boards and
transferred via optical links to the readout system. The read-out electronics
system is described in detail together with its measured performances.Comment: Proceeding of RICH2007 Conference, Trieste, Oct. 2007. v2: minor
change
Horizontal Branch Stars: The Interplay between Observations and Theory, and Insights into the Formation of the Galaxy
We review HB stars in a broad astrophysical context, including both variable
and non-variable stars. A reassessment of the Oosterhoff dichotomy is
presented, which provides unprecedented detail regarding its origin and
systematics. We show that the Oosterhoff dichotomy and the distribution of
globular clusters (GCs) in the HB morphology-metallicity plane both exclude,
with high statistical significance, the possibility that the Galactic halo may
have formed from the accretion of dwarf galaxies resembling present-day Milky
Way satellites such as Fornax, Sagittarius, and the LMC. A rediscussion of the
second-parameter problem is presented. A technique is proposed to estimate the
HB types of extragalactic GCs on the basis of integrated far-UV photometry. The
relationship between the absolute V magnitude of the HB at the RR Lyrae level
and metallicity, as obtained on the basis of trigonometric parallax
measurements for the star RR Lyrae, is also revisited, giving a distance
modulus to the LMC of (m-M)_0 = 18.44+/-0.11. RR Lyrae period change rates are
studied. Finally, the conductive opacities used in evolutionary calculations of
low-mass stars are investigated. [ABRIDGED]Comment: 56 pages, 22 figures. Invited review, to appear in Astrophysics and
Space Scienc
CP asymmetry in in a general two-Higgs-doublet model with fourth-generation quarks
We discuss the time-dependent CP asymmetry of decay in an
extension of the Standard Model with both two Higgs doublets and additional
fourth-generation quarks. We show that although the Standard Model with
two-Higgs-doublet and the Standard model with fourth generation quarks alone
are not likely to largely change the effective from the decay of
, the model with both additional Higgs doublet and
fourth-generation quarks can easily account for the possible large negative
value of without conflicting with other experimental
constraints. In this model, additional large CP violating effects may arise
from the flavor changing Yukawa interactions between neutral Higgs bosons and
the heavy fourth generation down type quark, which can modify the QCD penguin
contributions. With the constraints obtained from processes
such as and , this model can lead to the
effective to be as large as in the CP asymmetry of .Comment: 13 pages, 5 figures, references added, to appear in Eur.Phys.J.
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