Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.Fil: Sarrión, P.. Universidad de Barcelona; EspañaFil: Sangorrin, A.. Hospital Sant Joan de Déu; EspañaFil: Urreizti, R.. Universidad de Barcelona; EspañaFil: Delgado, María Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba; ArgentinaFil: Artuch, R.. Hospital Sant Joan de Déu; EspañaFil: Martorell, L.. Hospital Sant Joan de Déu; EspañaFil: Armstrong, J.. Hospital Sant Joan de Déu; EspañaFil: Anton, J.. Hospital Sant Joan de Déu; EspañaFil: Torner, F.. Hospital Sant Joan de Déu; EspañaFil: Vilaseca, M. A.. Hospital Sant Joan de Déu; EspañaFil: Nevado, J.. Hospital Universitario La Paz; EspañaFil: Lapunzina, P.. Hospital Universitario La Paz; EspañaFil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba; Argentina. Universidad Católica de Córdoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Balcells, S.. Universidad de Barcelona; EspañaFil: Grinberg, D.. Universidad de Barcelona; Españ

Axial Vector JPC=1++J^{PC}=1^{++} Charmonium and Bottomonium Hybrid Mass Predictions with QCD Sum-Rules

Axial vector $(J^{PC}=1^{++})$ charmonium and bottomonium hybrid masses are determined via QCD Laplace sum-rules. Previous sum-rule studies in this channel did not incorporate the dimension-six gluon condensate, which has been shown to be important for $1^{--}$ and $0^{-+}$ heavy quark hybrids. An updated analysis of axial vector charmonium and bottomonium hybrids is presented, including the effects of the dimension-six gluon condensate. The axial vector charmonium and bottomonium hybrid masses are predicted to be 5.13 GeV and 11.32 GeV, respectively. We discuss the implications of this result for the charmonium-like XYZ states and the charmonium hybrid multiplet structure observed in recent lattice calculations.Comment: 10 pages, 7 figures. Updated to match published versio

Sub-Doppler cooling of three-level A Atoms in space-shifted standing light waves

We present an investigation of an alternative mechanism for sub-Doppler cooling of atoms, based on coherent population transfer in three-level LAMBDA systems. The mechanism considered is that of a LAMBDA atom interacting with two standing light waves with a mutual spatial phase shift phi not-equal 0. The spatial dependence of the level populations of the LAMBDA atom for different values of phi is presented. For phi not-equal 0, this clearly demonstrates coherent population transfer in an atom with transverse motion along the space-shifted nodes and antinodes of the two standing waves. We show that this allows translational temperatures well below the Doppler limit T(D) = hgammaBAR/k(B) to be achieved

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel

Impacts of coral bleaching on reef fish abundance, biomass and assemblage structure at remote Aldabra Atoll, Seychelles: insights from two survey methods

Introduction: Coral bleaching immediately impacts the reef benthos, but effects on fish communities are less well understood because they are often delayed and confounded by anthropogenic interactions. Methods: We assessed changes in fish abundance, biomass and community composition before and after the 2015/16 coral bleaching event at Aldabra Atoll, Seychelles, where local human impacts are minimal, but reefs suffered 50% bleaching-induced coral mortality. We monitored 12 shallow (2–5 m water depth) and nine deep (15 m water depth) permanent survey sites using two survey methods: indicator surveys recording 84 taxa over six years (pre-: 2014; post-bleaching: 2016–2019, 2021), sizing fish based on six size-class categories, and extended fish surveys recording 198 taxa over two years (pre-: 2015; post-bleaching: 2020) with size estimates to the nearest cm (excluding fish < 8 cm). Results: During indicator surveys, mean fish abundance did not change on deep reefs. However, abundance increased by 77% on shallow reefs between 2014 and 2016, which was mainly driven by increases in herbivores and omnivores, likely as a response to elevated turf algae cover following coral mortality. Overall (and functional group-specific) indicator fish biomass did not differ between 2014 and 2016 and remained at or above pre-bleaching levels throughout 2016–2021. In contrast, extended fish surveys in 2015 and 2020 showed a 55–60% reduction in overall abundance on shallow and deep reefs, and a 69% reduction in biomass on shallow reefs, with decreases in biomass occurring in all functional groups. Biomass on deep reefs did not differ between 2015 and 2020. Multivariate analysis of both data sets revealed immediate and long-lasting differences between pre- and post-bleaching fish community compositions, driven largely by herbivorous, omnivorous and piscivorous taxa. Discussion: Results from the indicator surveys suggest that the bleaching event had limited impact on fish abundance and biomass, while the extended surveys recorded changes in abundance and biomass which would otherwise have gone undetected. Our findings improve understanding of the shift a broad community of fish undergoes following a mass coral bleaching event and highlights the value of survey methods that include the full suite of species to detect ecological responses to environmental drivers

Ni Iguals ni Banals

Projecte: 2018PID-UB/026Ni iguals ni banals és un projecte col·laboratiu entre estudiants de diferents facultats i presentat com un mètode resolutiu per transmetre informació mèdica a la societat. La idea del projecte sorgeix a partir de l’observació de l’ús incorrecte dels fàrmacs de venda lliure i els riscos derivats del seu consum inadequat. L’ibuprofè i el paracetamol són un claríssim exemple, pel que es decideix fer una intervenció, en forma de campanya educativa, orientada a fomentar un consum responsable d’aquests fàrmacs que es poden adquirir sense recepta mèdica. Una anàlisi de l’entorn mostra que la població jove és la que té menys contacte amb el sistema de salut i, per tant, menys oportunitats de rebre indicacions sobre l’ús correcte dels medicaments. A més, els joves formen part del rang d’edat més propens a realitzar auto-consultes en línia. La forma com Ni iguals ni banals pretén donar resposta al problema del mal ús dels fàrmacs és amb la creació d’un producte audiovisual dirigit a la població jove on es defineixin les indicacions específiques del paracetamol i de l’ibuprofè, així com les conseqüències del seu ús incorrecte a causa de les seves similituds farmacològiques. El material audiovisual elaborat té dos propòsits: 1) seduir a la població diana a través de l’elecció del gènere audiovisual més adient, la síntesi de la informació científica i l’ajust del registre verbal divulgatiu i 2) facilitar la seva difusió a través de les xarxes socials. Així mateix, és un format tancat i revisable per professionals abans de la seva difusió i, per tant, factible per a estudiants de Medicina que encara no són facultatius. Ni iguals ni banals és un exemple clar sobre com es pot combinar la identificació d’un problema real mèdic, la recerca d’informació tant poblacional com bibliogràfica i la col·laboració interdisciplinària, per englobar-ho tot en una dinàmica didàctica, de forma que els estudiants adquireixen habilitats pràctiques a la vegada que es desenvolupen en un ambient transversal

Electromagnetically induced transparency with a standing-wave drive in the frequency up-conversion regime

We study electromagnetically induced transparency for a probe traveling-wave (TW) laser field in closed Doppler-broadened three-level systems driven by a standing-wave (SW) laser field of moderate intensity (its Rabi frequencies are smaller than the Doppler width of the driven transition). We show that probe windows of transparency occur for values of the probe to drive field frequency ratio R close to half-integer values. For optical transitions and typical values of Doppler broadening for atoms in a vapor cell, we show that for R>1 a SW drive field is appreciably more efficient than a TW drive in inducing probe transparency. As examples, we consider parameters for real cascade schemes in barium atoms with R≈1.5 and in beryllium atoms with R≈3.5 showing that probe transmission values well above 50% are possible for conditions in which it is almost negligible either without driving field or with only one of the TW components of the drive. We show that a strongly asymmetric drive having two TW components with unequal intensities is even more eficient than a symmetric SW drive in inducing probe transparency. The case of arbitrary probe intensity is also considered

Multiple micronutrient supplementation improves vitamin B12 and folate concentrations of HIV infected children in Uganda: a randomized controlled trial

<p>Abstract</p> <p>Background</p> <p>The effect of multiple micronutrient supplementation on vitamin B₁₂and folate has hither to not been reported in African HIV infected children. This paper describes vitamin B₁₂and folate status of Ugandan HIV infected children aged 1-5 years and reports the effect of multiple micronutrient supplementation on serum vitamin B₁₂and folate concentrations.</p> <p>Methods</p> <p>Of 847 children who participated in a multiple micronutrient supplementation trial, 214 were assessed for vitamin B₁₂and folate concentrations pre and post supplementation. One hundred and four children were randomised to two times the recommended dietary allowance (RDA) of a 14 multiple micronutrient supplement (MMS) and 114 to a 'standard of care' supplement of 6 multivitamins (MV). Serum vitamin B₁₂was measured by an electrochemiluminescence immunoassay and folate by a competitive protein-binding assay using Modular E (Roche) automatic analyzer. Vitamin B₁₂concentrations were considered low if less than 221picomoles per litre (pmol/L) and folate if < 13.4 nanomoles per litre (nmol/L). The Wilcoxon Signed Ranks test was used to measure the difference between pre and post supplementation concentrations.</p> <p>Results</p> <p>Vitamin B₁₂was low in 60/214 (28%) and folate in 62/214 (29.0%) children. In the MMS group, the median concentration (IQR) of vitamin B₁₂at 6 months was 401.5 (264.3 - 518.8) pmol/L compared to the baseline of 285.5 (216.5 - 371.8) pmol/L, p < 0.001. The median (IQR) folate concentrations increased from 17.3 (13.5 - 26.6) nmol/L to 27.7 (21.1 - 33.4) nmol/L, p < 0.001. In the 'standard of care' MV supplemented group, the median concentration (IQR) of vitamin B₁₂at 6 months was 288.5 (198.8 - 391.0) pmol/L compared to the baseline of 280.0 (211.5 - 386.3) pmol/L while the median (IQR) folate concentrations at 6 months were 16.5 (11.7 - 22.1) nmol/L compared to 15.7 (11.9 - 22.1) nmol/L at baseline. There was a significant difference in the MMS group in both vitamin B₁₂and folate concentrations but no difference in the MV group.</p> <p>Conclusions</p> <p>Almost a third of the HIV infected Ugandan children aged 1-5 years had low serum concentrations of vitamin B₁₂and folate. Multiple micronutrient supplementation compared to the 'standard of care' supplement of 6 multivitamins improved the vitamin B₁₂and folate status of HIV infected children in Uganda.</p> <p>Trial registration</p> <p><url>http://ClinicalTrials.gov</url><a href="http://www.clinicaltrials.gov/ct2/show/NCT00122941">NCT00122941</a>)</p

Dynamics of coherently pumped lasers with linearly polarized pump and generated fields

The influence of light polarization on the dynamics of an optically pumped single-mode laser with a homogeneously broadened four-level medium is theoretically investigated in detail. Pump and laser fields with either parallel or crossed linear polarizations are considered, as are typical in far-infrared-laser experiments. Numerical simulations reveal dramatically different dynamic behaviors for these two polarization configurations. The analysis of the model equations allows us to find the physical origin of both behaviors. In particular, the crossed-polarization configuration is shown to be effective in decoupling the pump and laser fields, thus allowing for the appearance of Lorenz-type dynamics

Nanoscale structure of amyloid-β plaques in Alzheimer’s disease

Abstract Soluble amyloid-β (Aβ) is considered to be a critical component in the pathogenesis of Alzheimer’s disease (AD). Evidence suggests that these non-fibrillar Aβ assemblies are implicated in synaptic dysfunction, neurodegeneration and cell death. However, characterization of these species comes mainly from studies in cellular or animal models, and there is little data in intact human samples due to the lack of adequate optical microscopic resolution to study these small structures. Here, to achieve super-resolution in all three dimensions, we applied Array Tomography (AT) and Stimulated Emission Depletion microscopy (STED), to characterize in postmortem human brain tissue non-fibrillar Aβ structures in amyloid plaques of cases with autosomal dominant and sporadic AD. Ultrathin sections scanned with super-resolution STED microscopy allowed the detection of small Aβ structures of the order of 100 nm. We reconstructed a whole human amyloid plaque and established that plaques are formed by a dense core of higher order Aβ species (~0.022 µm3) and a peripheral halo of smaller Aβ structures (~0.003 µm3). This work highlights the potential of AT-STED for human neuropathological studies