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

Are dentists enough aware of infectious risk associated with dental unit waterlines?

Environmental conditions in DU encourage biofilm development. This biofilm may represent a risk for patients and dental staff exposed to water and aerosols generated during dental cares, particularly for immunocompromised persons. A survey was conducted on the 175 dental surgeons of the department of Vienne (France) to investigate the motivations of dental practitioners to renew their DU, their awareness levels with respect to infectious risks related to water circulating within DU, and methods used for the maintenance of DU waterlines. These dentists were only partially aware of the need for maintaining DU waterlines. For this maintaining, chemical treatments and purges of pipes were carried out by 88% and 91.5% of dentists respectively ; chemical treatments were usually on a continous mode and dentists seemed to have complete confidence in their DU supplier regarding the choice and the use of chemical treatments. Flushes were performed only once per day in most cases (63%). This survey also highlighted that dentists were not enough aware of water related infectous risk, even though 68% estimated that the development of a biofilm within DU waterlines was an actual risk. Finally, very positively, dentists strongly indicated their wish to be more informed regarding all these risks. Although these results are based on a relatively small sample, corresponding to dentists of a French department, they clearly suggest that awareness of dental surgeons is still insufficient and must be performed to permit an effective prevention of infectious risk related to DU waterlines

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

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

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy

Biochem Biophys Res Commun. 2007 Mar 23;354(4):937-41. Epub 2007 Jan 23. Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy. Pereira C, Nogueira C, Barbot C, Tessa A, Soares C, Fattori F, Guimarães A, Santorelli FM, Vilarinho L. Instituto de Genética Médica Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal. Abstract We report a novel 14724G>A mutation in the mitochondrial tRNA glutamic acid gene in a 4-year-old boy with myopathy and leukoencephalopathy. A muscle biopsy showed cytochrome c oxidase-negative ragged-red fibers and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed partial complex I and complex IV deficiencies. The mutation, which affects the dihydrouridine arm at a conserved site, was nearly homoplasmic in muscle and heteroplasmic in blood DNA of the proband, but it was absent in peripheral leukocytes from the asymptomatic mother, sister, and two maternal aunts, suggesting that it arose de novo. This report proposes to look for variants in the mitochondrial genome when dealing with otherwise undetermined leukodystrophies of childhood. PMID: 17266923 [PubMed - indexed for MEDLINE

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

The management of student´s virtual money – sensibilisation and learning for life

The advanced technological age, marketing and society of the abundance in which we live, have a strong influence on the consumption and eating habits of the children. Every day in schools, these little human beings make autonomous choices and their parents, despite seeking to control and know their actions, cannot do it entirely for many reasons. The study was carried out in a group of the fifth grade and their results were subjected to a descriptive and inferential analysis, in which the purpose was to study the relation of some of the variables in question. The conclusions point for example to the parents' lack of knowledge in what concerns the type of consumption and on how their students spend their money. So it can be said that the role of the school in raising responsible citizens in managing their money is a necessary and continuous learning throughout the school life.info:eu-repo/semantics/publishedVersio

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