Characterization of a rare analphoid supernumerary marker chromosome in mosaic

Abstract publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA. These marker chromosomes cannot be identified unambiguously by conventional banding techniques alone being necessary to apply molecular cytogenetic methods in favour of a detailed characterization. In this work we report an analphoid SMC involving the terminal long arm of chromosome 7, in 9 years-old boy with several dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20 % of lymphocytes and 73 % of fibroblast cells. FISH analysis with alpha-satellite probes for all chromosomes, whole chromosome painting probe for chromosome 7, and D7S427 and TelVysion 7q probes, allowed establishing the origin of the SMC as an analphoidmarker resulting of an invdup rearrangement of 7q36-qter region. Affimetrix CytoScan HD microarray analysis, redefined the SMC to arr[hg19] 7q35(143696249-159119707)×2~3, which correspond to a gain of 15.42 Mb and encloses 67 OMIM genes, 16 of which are associated to disease. This result, combined with detailed clinical description, will provide an important means for better genotype-phenotype correlation and a more suitable genetic counselling to the patient and his parents, despite the additional difficulty resulting from being a mosaic (expression varies in different tissues). Analphoid SMCs derived from chromosome 7 are very rare, with only three cases reported so far. With this case we hope contribute to a better understanding of this type of chromosome rearrangements which are difficult for genetic counselling

Corrections to the Boltzmann mean free path in disordered systems with finite size scatterers

The mean free path is an essential characteristic length in disordered systems. In microscopic calculations, it is usually approximated by the classical value of the elastic mean free path. It corresponds to the Boltzmann mean free path when only isotropic scattering is considered, but it is different for anisotropic scattering. In this paper, we work out the corrections to the so called Boltzmann mean free path due to multiple scattering effects on finite size scatterers, in the s-wave approximation, ie. when the elastic mean free path is equivalent to the Boltzmann mean free path. The main result is the expression for the mean free path expanded in powers of the perturbative parameter given by the scatterer density.Comment: 12 page

OnabotulinumtoxinA for hemicrania continua: open label experience in 9 patients

BACKGROUND: Hemicrania continua is a strictly unilateral, continuous headache, typically mild to moderate in severity, with severe exacerbations commonly accompanied by cranial autonomic features and migrainous symptoms. It is exquisitely responsive to Indomethacin. However, some patients cannot tolerate treatment, often due to gastrointestinal side effects. Therapeutic alternatives are limited and controlled evidence lacking. METHODS: We present our experience of nine patients treated with OnabotulinumtoxinA for hemicrania continua. All patients were injected using the PREEMPT (Phase 3 REsearch Evaluating Migraine Prophylaxis Therapy) protocol for migraine. RESULTS: Five of nine patients demonstrated a 50% or more reduction in moderate to severe headache days with OnabotulinumtoxinA with a median reduction in moderate to severe headache days of 80%. Patient estimate of response was 80% or more in five subjects. The median and mean duration of response in the five responders was 11 and 12 weeks (range 6-20 weeks). Improvements were also seen in headache-associated disability CONCLUSIONS: OnabotulinumtoxinA adds a potential option to the limited therapeutic alternatives available in hemicrania continua

Using magnetic nanoparticles to probe protein damage in ferritin caused by freeze concentration

We demonstrate a method for monitoring the damage caused to a protein during freeze-thawing in the presence of glycerol, a cryo-protectant. For this work we synthesized magnetite nanoparticles doped with 2.5% cobalt inside the protein ferritin (CMF), dissolved them in different concentration glycerol solutions and measured their magnetization after freezing in a high applied field (5 T). As the temperature was raised, a step-like decrease in the sample magnetization was observed, corresponding to the onset of Brownian relaxation as the viscosity of the freeze-concentrated glycerol solution decreased. The position of the step reveals changes to the protein hydrodynamic radius that we attribute to protein unfolding, while its height depends on how much protein is trapped by ice during freeze concentration. Changes to the protein hydrodynamic radius are confirmed by dynamic light scattering (DLS) measurements, but unlike DLS, the magnetic measurements can provide hydrodynamic data while the solution remains mainly frozen

Chitosan membranes exhibiting shape memory capability by the action of controlled hydration

Chitosan membranes can undergo a glass transition at room temperaturetriggered by hydration. The mechanical properties of the membranes were followed by atension test and dynamic mechanical analysis (DMA), with the sample in wet conditionsafter being immersed in varying compositions of water/ethanol mixtures. Results show thatwith the increasing of water content, the Young’s and storage modulus decreasesystematically. For water contents of ca. 35 vol%, chitosan (CHT) exhibits a glasstransition, showing an elastomeric plateau in the elastic modulus above this hydration leveland the occurrence of a peak in the loss factor. Due to the semi-crystalline nature of CHT,membranes of this biomaterial present a shape memory capability induced by water uptake.By fixation of the permanent shape by further covalent cross-linking, the membranes canhave different permanent shapes appropriate for different applications, including in thebiomedical area.This work was supported by the Portuguese Foundation for Science and Technology Foundation (FCT) through project PTDC/FIS/115048/2009

Effect of superior blepharoplasty on tear film: objective evaluation with the Keratograph 5M - a pilot study

PURPOSE: To evaluate the effect of superior blepharoplasty on the tear film using the corneal topographer Keratograph 5M. METHODS: A prospective study was performed of 27 eyes of 14 patients with superior dermatochalasis who underwent superior blepharoplasty between May and June 2016. Conservative upper eyelid blepharoplasty was performed by an en bloc resection of anterior lamellar tissue that included skin, subcutaneous tissue, and the orbicularis oculi muscle. All the eyes were imaged using the noninvasive tear breakup time tools of the Keratograph 5M. The following parameters were recorded in each patient before and 6 weeks after surgery: first noninvasive Keratograph 5M tear breakup time (the time at which the first breakup of tears occurs) and average noninvasive Keratograph 5M tear breakup time (the average time of all breakup incidents). The exclusion criteria were ophthalmological pathology, previous eyelid surgery, use of eye drops, systemic pathology, and medication that interferes with lacrimal tears. RESULTS: The mean age of the patients was 65.1 years (range, 51-84); 86% were female. Student's t-test was used to compare the values of first and average noninvasive Keratograph 5M tear breakup times before and after surgery. The values for first noninvasive Keratograph 5M tear breakup time evaluated before and after surgery were not significantly different (9.04 and 8.71, respectively; p=0.926). The values for average noninvasive Keratograph 5M tear breakup time evaluated before and after surgery were also not significantly different (13.01 seconds and 13.14 seconds, respectively; p=0.835). CONCLUSIONS: The results of this pilot study suggest that upper blepharoplasty does not affect tear breakup time according to the objective evaluation of breakup time with the Keratograph 5M.info:eu-repo/semantics/publishedVersio

Towards more humane machines: creating emotional social robots

Robots are now widely used in industrial settings, and today the world has woken up to the impact that they will have in our society. But robots have been limited to repetitive, industrial tasks. However, recent platforms are becoming more secure to operate amongst humans, and research in Human-Robot Interaction (HRI) is preparing robots for use in schools, public services and eventually everyone’s home. If we aim for a robot flexible enough to work around humans and decide autonomously how to act in complex situations, a notion of morality is needed for their decision making. In this chapter we argue that we can achieve some level of moral decision making in social robots if they are endowed with empathy capabilities. We then discuss how to build artificial empathy in robots, giving some concrete examples of how these implementations can guide the path to creating moral social robots in the future.info:eu-repo/semantics/acceptedVersio