The identification of multiple thrombophilic risk factors in an infant with cerebrovascular accident

We found 1 article: Rev Neurol. 2005 Apr 16-30;40(8):479-81. [The identification of multiple thrombophilic risk factors in an infant with cerebrovascular accident] [Article in Spanish] Neves J, Costa E, Branca R, Carrilho I, Barbot J, Barbot C. Servicio de Hematología, Hospital de Crianças Maria Pia, 4050-111 Porto, Portugal. Abstract INTRODUCTION: Neonatal stroke (NNS) incidence appears to be increasing over the last years. This is believed to be a consequence of diagnostic accuracy rather than a real amplification of this entity. Nowadays, NNS incidence is estimated to be 1:4000 full newborns. CASE REPORT: Child with left middle cerebral artery territory infarction in which several thromboembolic risk factors were documented both in the child (neonatal sepsis and factor V Leiden) and his mother (lupus anticoagulant, pre-eclampsy and factor V Leiden). CONCLUSIONS: This case supports the increasing evidence in recent reports that association of multiple prothrombotic risk factors (maternal and foetal) is present in NNS genesis. This way the authors agree that wide prothrombotic study may be of crucial interest in identifying subjacent thrombophilic disease, even when an exogenous risk factor is present. PMID: 15861329 [PubMed - indexed for MEDLINE

Geometry and observables in (2+1)-gravity

We review the geometrical properties of vacuum spacetimes in (2+1)-gravity with vanishing cosmological constant. We explain how these spacetimes are characterised as quotients of their universal cover by holonomies. We explain how this description can be used to clarify the geometrical interpretation of the fundamental physical variables of the theory, holonomies and Wilson loops. In particular, we discuss the role of Wilson loop observables as the generators of the two fundamental transformations that change the geometry of (2+1)-spacetimes, grafting and earthquake. We explain how these variables can be determined from realistic measurements by an observer in the spacetime.Comment: Talk given at 2nd School and Workshop on Quantum Gravity and Quantum Geometry (Corfu, September 13-20 2009); 10 pages, 13 eps figure

Atypical haemolytic-uraemic syndrome caused by factor H mutation: case report and new management strategies in children

Atypical haemolytic uraemic syndrome is causedby alternative complement pathway dysregulation. It has recently been recognised that most cases are due to genetic factors and a growing list of mutations has been described. Atypical haemolytic uraemic syndrome is associated with a dismal prognosis, a relapsing course, high acute mortality and frequent progression to end-stage renal disease. We describe a five-year-old boy admitted with a first recurrence of atypical haemolytic uraemic syndrome. The primary onset of the disease was at 15 months of age, following which there was complete recovery of haematological and renal parameters. His family history was significant in that his mother had died at the age of only 23 years of a stroke with associated thrombotic microangiopathy, suggesting a familial form of the disease. Sequencing of the gene encoding complement factor H revealed a heterozygous SCR20 mutation (3644G>T, Arg1215Leu), confirming the diagnosis. The patient was successfully treated with fresh frozen plasma infusions that induced disease remission. We also review currently evolving concepts about atypical haemolytic uraemic syndrome caused by factor H mutation, its diagnosis, the role of genetic testing and management strategies in children

Spatially variable fault friction derived from dynamic modeling of aseismic afterslip due to the 2004 Parkfield earthquake

We investigate fault friction from dynamic modeling of fault slip prior to and following the Mw 6.0 earthquake which ruptured the Parkfield segment of the San Andreas Fault in 2004. The dynamic modeling assumes a purely rate-strengthening friction law, with a logarithmic dependency on sliding rate: μ=μ *+a-blnvv*. The initial state of stress is explicitly taken into account, and afterslip is triggered by the stress change induced by the earthquake source model given a priori. We consider different initial stress states and two coseismic models, and invert for the other model parameters using a nonlinear inversion scheme. The model parameters include the reference friction μ*, the friction rate dependency characterized by the quantity a-b, assumed to be either uniform or depth dependent. The model parameters are determined from fitting the transient postseismic geodetic signal measured at continuous GPS stations. Our study provides a view of frictional properties at the kilometers scale over the 0-15 km depth illuminated by the coseismic stress change induced by the Parkfield earthquake. The reference friction is estimated to be between 0.1 and 0.5. With independent a priori constraints on the amplitude of differential stress, the range of possible values narrows down to 0.1-0.17. The friction rate coefficient a-b is estimated to be � 10- 3 - 10- 2 with a hint that it increases upward from about 1-3 � 10-3 at 3-7 km depth to about 4-7 � 10-3 at 0-1 km depth. It is remarkable that our results are consistent with frictional properties measured on rock samples recovered from the fault zone thanks to the San Andreas Fault Observatory at Depth experiment. ©2013. American Geophysical Union. All Rights Reserved

Probing mSUGRA via the Extreme Universe Space Observatory

An analysis is carried out within mSUGRA of the estimated number of events originating from upward moving ultra-high energy neutralinos that could be detected by the Extreme Universe Space Observatory (EUSO). The analysis exploits a recently proposed technique that differentiates ultra-high energy neutralinos from ultra-high energy neutrinos using their different absorption lengths in the Earth's crust. It is shown that for a significant part of the parameter space, where the neutralino is mostly a Bino and with squark mass $\sim 1$ TeV, EUSO could see ultra-high energy neutralino events with essentially no background. In the energy range 10^9 GeV < E < 10^11 GeV, the unprecedented aperture of EUSO makes the telescope sensitive to neutralino fluxes as low as 1.1 \times 10^{-6} (E/GeV)^{-1.3} GeV^{-1} cm^{-2} yr^{-1} sr^{-1}, at the 95% CL. Such a hard spectrum is characteristic of supermassive particles' $N$-body hadronic decay. The case in which the flux of ultra-high energy neutralinos is produced via decay of metastable heavy particles with uniform distribution throughout the universe is analyzed in detail. The normalization of the ratio of the relics' density to their lifetime has been fixed so that the baryon flux produced in the supermassive particle decays contributes to about 1/3 of the events reported by the AGASA Collaboration below 10^{11} GeV, and hence the associated GeV gamma-ray flux is in complete agreement with EGRET data. For this particular case, EUSO will collect between 4 and 5 neutralino events (with 0.3 of background) in ~ 3 yr of running. NASA's planned mission, the Orbiting Wide-angle Light-collectors (OWL), is also briefly discussed in this context.Comment: Some discussion added, final version to be published in Physical Review

On The Injection Spectrum of Ultrahigh Energy Cosmic Rays in the Top-Down Scenario

We analyze the uncertainties involved in obtaining the injection spectra of UHECR particles in the top-down scenario of their origin. We show that the DGLAP $Q^2$ evolution of fragmentation functions (FF) to $Q=M_X$ (mass of the X particle) from their initial values at low $Q$ is subject to considerable uncertainties. We therefore argue that, for x\lsim 0.1 (the $x$ region of interest for most large $M_X$ values of interest, $x\equiv 2E/M_X$ being the scaled energy variable), the FF obtained from DGLAP evolution is no more reliable than that provided, for example, by a simple Gaussian form (in the variable $\ln(1/x)$) obtained under the Modified Leading Log Approximation (MLLA). Additionally, we find that for x\gsim0.1, the evolution in $Q^2$ of the singlet FF, which determines the injection spectrum, is ``minimal'' -- the singlet FF changes by barely a factor of 2 after evolving it over $\sim$ 14 orders of magnitude in $Q\sim M_X$. We, therefore, argue that as long as the measurement of the UHECR spectrum above \sim10^{20}\ev is going to remain uncertain by a factor of 2 or larger, it is good enough for most practical purposes to directly use any one of the available initial parametrisations of the FFs in the $x$ region x\gsim0.1 based on low energy data even without evolving them to the requisite $Q^2$ value.Comment: Minor changes, added a reference, version to appear in Phys. Rev.

Galactosemia: genotipo y fenotipo de siete pacientes

Rev Neurol. 2004 Jun 16-30;38(12):1132-5. [Galactosemia: the genotype and phenotype of seven patients]. [Article in Spanish] Martins E, Teixeira J, Cardoso ML, Lima MR, Briones-Godino P, Barbot C. SourceUnidad de Metabolismo, Hospital de Niños Maria Pia, Oporto, Portugal. [email protected] Abstract INTRODUCTION: Despite early dietary therapy, many patients with galactosemia show a neurodegenerative disease specially evident in speech impairment and movement disorders. Magnetic resonance imaging of the brain, show cerebral white matter changes with hypomielinization bilateral and symetrical periventricular hypersignal in T2. PATIENTS AND METHODS: We presented clinical and neuroradiological data of seven children (3 to 12 years of age) with classical galactosemia. All had a typical presentation in neonatal period. Two children had normal development (10 and 12 years-old), four presented developmental delay (10, 7, 4 and 3 years-old), and one showed a dystonic cerebral palsy (kernicterus). RESULTS: The brain MRI showed the typical involvement of white matter, in five children, and basal ganglia abnormalities in the kernicterus patient. Three patients are homozygous for Q188R mutation and two are compound heterozygous. CONCLUSION: We found a positive correlation among developmental delay, white matter involvement and Q188R mutation

Electroweak Evolution Equations

Enlarging a previous analysis, where only fermions and transverse gauge bosons were taken into account, we write down infrared-collinear evolution equations for the Standard Model of electroweak interactions computing the full set of splitting functions. Due to the presence of double logs which are characteristic of electroweak interactions (Bloch-Nordsieck violation), new infrared singular splitting functions have to be introduced. We also include corrections related to the third generation Yukawa couplings.Comment: 15 pages, 3 figure