UBE2A Deficiency Syndrome: Mild to Severe Intellectual Disability Accompanied by Seizures, Absent Speech, Urogenital, and Skin Anomalies in Male Patients

We describe three patients with a comparable deletion encompassing SLC25A43, SLC25A5, CXorf56, UBE2A, NKRF, and two non-coding RNA genes, U1 and LOC100303728. Moderate to severe intellectual disability (ID), psychomotor retardation, severely impaired/absent speech, seizures, and urogenital anomalies were present in all three patients. Facial dysmorphisms include ocular hypertelorism, synophrys, and a depressed nasal bridge. These clinical features overlap with those described in two patients from a family with a similar deletion at Xq24 that also includes UBE2A, and in several patients of Brazilian and Polish families with point mutations in UBE2A. Notably, all five patients with an Xq24 deletion have ventricular septal defects that are not present inpatients with a point mutation, which might be attributed to the deletion of SLC25A5. Taken together, the UBE2A deficiency syndrome in male patients with a mutation in or a deletion of UBE2A is characterized by ID, absent speech, seizures, urogenital anomalies, frequently including a small penis, and skin abnormalities, which include generalized hirsutism, low posterior hairline, myxedematous appearance, widely spaced nipples, and hair whorls. Facial dysmorphisms include a wide face, a depressed nasal bridge, a large mouth with downturned corners, thin vermilion, and a short, broad neck. (C) 2010 Wiley-Liss, Inc.

High genetic diversity in field isolates of Trypanosoma theileri assessed by analysis of cathepsin L-like sequences disclosed multiple and new genotypes infecting cattle in Thailand

In this study, we describe the first survey in Thailand of Trypanosoma theileri, a widespread and prevalent parasite of cattle that is transmitted by tabanid flies. Investigation of 210 bovine blood samples of Thai cattle from six farms by hematocrit centrifuge technique (HCT) revealed 14 samples with trypanosomes morphologically compatible to T. theileri. Additional animals were positive for T. theileri by PCR based on the Cathepsin L-like sequence (TthCATL-PCR) despite negative by HCT, indicating cryptic infections. Results revealed a prevalence of 26 +/- 15% (95% CI) of T. theileri infection. Additionally, 12 samples positive for T. theileri were detected in cattle from other 11 farms. From a total of 30 blood samples positive by HCT and/or PCR from 17 farms, seven were characterized to evaluate the genetic polymorphism of T. theileri through sequence analysis of PCR-amplified CATL DNA sequences. All CATL sequences of T. theileri from Thai cattle clustered with sequences of the previously described phylogenetic lineages TthI and TthII, supporting only two major lineages of T. theileri in cattle around the world. However, 11 of the 29 CATL sequences analyzed showed to be different, disclosing an unexpectedly large polymorphic genetic repertoire, with multiple genotypes of T. theileri not previously described in other countries circulating in Thai cattle. (C) 2011 Elsevier B.V. All rights reserved.

Coherent states of a particle in a magnetic field and the Stieltjes moment problem

A solution to a version of the Stieltjes moment. problem is presented. Using this solution, we construct a family of coherent states of a charged particle in a uniform magnetic field. We prove that these states form an overcomplete set that is normalized and resolves the unity. By the help of these coherent states we construct the Fock-Bergmann representation related to the particle quantization. This quantization procedure takes into account a circle topology of the classical motion. (C) 2009 Elsevier B.V. All rights reserved.

Electronic states in quantum rings: electric field and eccentricity effects

The polarization effects of in-plane electric fields and eccentricity on electronic and optical properties of semiconductor quantum rings (QRs) are discussed within the effective-mass approximation. As eccentric rings may appropriately describe real (grown or fabricated) QRs, their energy spectrum is studied. The interplay between applied electric fields and eccentricity is analysed, and their polarization effects are found to compensate for appropriate values of eccentricity and field intensity. The importance of applied fields in tailoring the properties of different nanoscale materials and structures is stressed.

Detection of numerical chromosome anomalies in interphase cells of benign and malignant thyroid lesions using fluorescence in situ hybridization

Benign and malignant thyroid tumors constitute a wide range of neoplasias showing recurrent chromosome abnormalities. In an attempt to characterize specific numerical chromosome abnormalities in thyroid tissues, We present here the findings from a study of archival samples depicted by 10 malignant tumors, 30 benign lesions, and 10 normal thyroid tissues. Fluorescence in situ hybridization was performed on noncultured samples using biotinylated centromere-specific probes for chromosomes 7, 10, and 17. Trisomy or tetrasomy 7 were present in 19 benign and in 7 malignant tumors. Trisomy 10 or 17 were observed in 18 adenomas or goiters and in 9 carcinomas, and monosomy 17 was seen in 2 carcinomas. Our findings suggest that such abnormalities are an in vivo phenomenon and may be important in the neoplastic proliferation of thyroid gland. (C) Elsevier B.V., 2000. All rights reserved.

Evolution of magnetic field and spin period in accreting neutron stars

Based on the accretion-induced magnetic field decay model, in which a frozen field and an incompressible fluid are assumed, we obtain the following results: (1) an analytic relation between the magnetic field and spin period, if the fastness parameter of the accretion disk is neglected (The evolutionary tracks of accreting neutron stars in the P-B diagram in our model are different from the equilibrium period lines when the influence of the fastness parameter is taken into account.); (2) the theoretical minimum spin period of an accreting neutron star is max(1.1ms (DeltaM/M(circle dot))(-1)R(6)(-5/14) I(45)(M/M(circle dot))(-1/2),1.1ms (M/M(circle dot))(-1/2) R(6)(17/14)), independent of the accretion rate (X-ray luminosity) but dependent on the total accretion mass, DeltaM; however, the minimum magnetic field depends on the accretion rate; (3) the magnetic field strength decreases faster with time than does the period.

Search for large extra dimensions in dimuon and dielectron events in pp collisions at root s=7 TeV

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Chiral symmetry breaking in QCD-like gauge theories with a confining propagator and dynamical gauge boson mass generation

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Acephate and methamidophos residues in greenhouse and in field grown tomatoes

O aumento da produção hortícola em cultivo protegido necessita de estudos mais detalhados acerca da ocorrência de resíduos de agrotóxicos, devido às condições ambientais peculiares nesse sistema, no qual pragas de pouca importância no campo assumem relevância. Avaliou-se os resíduos dos inseticidas acefato e de seu metabólito metamidofós em tomate sob cultivo protegido e em campo. Os tratamentos aplicados foram: (a) testemunha; (b) uma aplicação de 75 g i.a. acefato.100 L-1 de água; (c) uma aplicação com 150 g i.a.100 L-1 de água; (d) quatro aplicações na dosagem de 75 g i.a.100 L-1 de água. As amostras foram tomadas a (-1), zero, 1, 3, 7, 14 e 21 dias após a última ou única aplicação. A determinação quantitativa foi feita por técnica de cromatografia em fase gasosa, usando-se detector fotométrico de chama. Os resíduos de acefato e de metamidofós nos frutos de cultivo protegido e de campo, sempre estiveram abaixo dos respectivos limites máximos de resíduos (LMRs) em todo o período de colheita das amostras. Ainda, o metabolismo de acefato a metamidofós foi muito baixo nos frutos, particularmente importante nas folhas, mas não foi bem caracterizado no solo. Os resíduos de acefato foram maiores no cultivo protegido do que no campo, especialmente em folhas e no solo, sendo também estáveis e persistentes, em geral até a amostragem de 7 dias após a aplicação.

Self-bound droplet of Bose and Fermi atoms in one dimension: Collective properties in mean-field and Tonks-Girardeau regimes

We investigate a dilute mixture of bosons and spin-polarized fermions in one dimension. With an attractive Bose-Fermi scattering length the ground state is a self-bound droplet, i.e., a Bose-Fermi bright soliton where the Bose and Fermi clouds are superimposed. We find that the quantum fluctuations stabilize the Bose-Fermi soliton such that the one-dimensional bright soliton exists for any finite attractive Bose-Fermi scattering length. We study density profile and collective excitations of the atomic bright soliton showing that they depend on the bosonic regime involved: mean-field or Tonks-Girardeau.

ANOMALIES IN CURVED SPACETIME AT FINITE TEMPERATURE

We discuss the problem of the breakdown of conformal and gauge symmetries at finite temperature in curved-spacetime background, when the changes in the background are gradual, in order to have a well-defined quantum field theory at finite temperature. We obtain the expressions for Seeley's coefficients and the heat-kernel expansion in this regime. As applications, we consider the self-interacting lambdaphi4 and chiral Schwinger models in curved backgrounds at finite temperature.

Magnetic-field and confinement effects on the effective Land, g factor in AlxGa1-xAs parabolic quantum wells

The magnetic-field and confinement effects on the Land, factor in AlxGa1-xAs parabolic quantum wells under magnetic fields applied parallel or perpendicular to the growth direction are theoretically studied. Calculations are performed in the limit of low temperatures and low electron density in the heterostructure. The g factor is obtained by taking into account the effects of non-parabolicity and anisotropy of the conduction band through the 2 x 2 Ogg-McCombe Hamiltonian, and by including the cubic Dresselhaus spin-orbit term. A simple formula describing the magnetic-field dependence of the effective Land, factor is analytically derived by using the Rayleigh-Schrodinger perturbation theory, and it is found in good agreement with previous experimental studies devoted to understand the behavior of the g factor, as a function of an applied magnetic field, in semiconductor heterostructures. Present numerical results for the effective Land, factor are shown as functions of the quantum-well parameters and magnetic-field strength, and compared with available experimental measurements.

Reconstruction of deformed defects in field theory from deformed zero modes and applications

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Characterization of Staphylococcus aureus isolates in milk and the milking environment from small-scale dairy farms of São Paulo, Brazil, using pulsed-field gel electrophoresis

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)