Sarcoma sinovial sobre grave traumatismo de pie

El sarcoma sinovial es una neoplasia mesenquimal maligna poco frecuente, apareciendo como una tumoración profunda de crecimiento lento, con nulo o escaso dolor y poca alteración funcional por lo que el diagnóstico suele ser tardío. El antecedente traumático de ha registrado en algún caso sin probar relación etiológica. Se presenta el caso clínico de un varón de 56 años de edad, que sufrió un grave traumatismo en los pies con fractura de ambos calcáneos y II, III y IV MTT pie derecho más luxación articulación metatarso falángica del primer dedo. Tras la intervención mediante enclavijado sin exposición de los focos de lesión, la evolución de las fracturas fue buena, observando a los diez meses una tumoración en el dorso del pie derecho diagnosticada como sarcoma sinovial por biopsia. Tras el estudio de extensión de la neoplasia de objetivó afectación multisitémica y a pesar de los tratamientos instaurados al paciente falleció tres meses después. Se discute la dificultad del diagnóstico diferencialSynovial sarcoma is an inusual mesenchymal neoplasm, appearing as a deep tumour of show growth, with none or rare pain and few functional disturbances. These features usually lead to a late diagnosis. Previous injury is present in some cases but there in no proven ethilogical relation. We present a male, age 56, who suffered a serious feet injury leading to fracture of both calcaneus and II, III and IV MTT right foot with dislocation MTT-falangic of first finger. After surgery with with closed Kirschner wires, the evolution was good. Ten months later a tumour appeared on the right foot, diagnosed as a synovial sarcoma after biopsy. The stating study showed multisystemic damage and the patient died three months in spite of treatment. We address the difficulty of the differential diagnose

Review of concepts in therapeutic decision-making in HER2-negative luminal metastatic breast cancer

Purpose: Hormone receptor (HR)-positive, Human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer (MBC) requires a therapeutic approach that takes into account multiple factors, with treatment being based on anti-estrogen hormone therapy (HT). As consensus documents are valuable tools that assist in the decision-making process for establishing clinical strategies and optimize the delivery of health services, this consensus document has been created with the aim of developing recommendations on cretiera for hormone sensitivity and resistance in HER2-negative luminal MBC and facilitating clinical decision-making. Methods: This consensus document was generated using a modification of the RAND/UCLA methodology, which included the definition of the project and identification of issues of interest, a non-exhaustive systematic review of the literature, an analysis and synthesis of the scientific evidence, preparation of recommendations, and external evaluation with a panel of 64 medical oncologists specializing in breast cancer. Results: A Spanish panel of experts reached consensus on 32 of the 32 recommendations/conclusions presented in the first round and were accepted with an approval rate of 100% about definition of metastatic disease not susceptible to local curative treatment, definition of hormone sensitivity and hormone resistance in metastatic luminal disease and therapeutic decision-making. Conclusion: We have developed a consensus document with recommendations on the treatment of patients with HER2-negative luminal MBC that will help to improve therapeutic benefits

Studies with the Golgi method in central gangliogliomas and dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)

The rapid Golgi method, combined with current optical and electronmicroscopica1 techniques, was used in three central gangliogliomas and in one dysplastic gangliocytoma of the cerebellum to study the morphology of ganglionic cells. Gangliogliomas were composed of bipolar, fusiform and radiate cells with dense core and clear vesicles in the perikaryon and cellular processes, the number of each cellular type varying from one case to another. These features, together with the fact that isodendritic neurons are considered to be phylogenetically old neurons, suggest that these tumours are composed of 'primitive' neurons that are not homogeneous with regard to their morphology. In contrast, ganglionic cells in dysplastic gangliocytoma are huge cells with long, stereotyped neurites that establish unique asymmetric contacts with neighbouring perikarya and neurites by means of claw-shaped processes covered with synaptic buttons. These morphological characteristics are different from those of any other neuron of the CNS

Bulk and surface switching in Mn-Fe-based Prussian Blue Analogues

Many Prussian Blue Analogues are known to show a thermally induced phase transition close to room temperature and a reversible, photo-induced phase transition at low temperatures. This work reports on magnetic measurements, X-ray photoemission and Raman spectroscopy on a particular class of these molecular heterobimetallic systems, specifically on Rb0.81Mn[Fe(CN)6]0.95_1.24H2O, Rb0.97Mn[Fe(CN)6]0.98_1.03H2O and Rb0.70Cu0.22Mn0.78[Fe(CN)6]0.86_2.05H2O, to investigate these transition phenomena both in the bulk of the material and at the sample surface. Results indicate a high degree of charge transfer in the bulk, while a substantially reduced conversion is found at the sample surface, even in case of a near perfect (Rb:Mn:Fe=1:1:1) stoichiometry. Thus, the intrinsic incompleteness of the charge transfer transition in these materials is found to be primarily due to surface reconstruction. Substitution of a large fraction of charge transfer active Mn ions by charge transfer inactive Cu ions leads to a proportional conversion reduction with respect to the maximum conversion that is still stoichiometrically possible and shows the charge transfer capability of metal centers to be quite robust upon inclusion of a neighboring impurity. Additionally, a 532 nm photo-induced metastable state, reminiscent of the high temperature Fe(III)Mn(II) ground state, is found at temperatures 50-100 K. The efficiency of photo-excitation to the metastable state is found to be maximized around 90 K. The photo-induced state is observed to relax to the low temperature Fe(II)Mn(III) ground state at a temperature of approximately 123 K.Comment: 12 pages, 8 figure

Li abundances in F stars: planets, rotation and galactic evolution

We find that hot jupiter host stars within the T$_\mathrm{eff}$ range 5900-6300K show lower Li abundances, by 0.14 dex, than stars without detected planets. This offset has a significance at the level 7$\sigma$, pointing to a stronger effect of planet formation on Li abundances when the planets are more massive and migrate close to the star. However, we also find that the average v \textit{sin}i of (a fraction of) stars with hot jupiters is higher on average than for single stars in the same T$_\mathrm{eff}$ region, suggesting that rotationally-induced mixing (and not the presence of planets) might be the cause for a greater depletion of Li. We confirm that the mass-metallicity dependence of the Li dip is extended towards [Fe/H] $\sim$ 0.4 dex (beginning at [Fe/H] $\sim$ -0.4 dex for our stars) and that probably reflects the mass-metallicity correlation of stars of the same T$_\mathrm{eff}$ on the Main Sequence. We find that for the youngest stars ($<$ 1.5 Gyr) around the Li dip, the depletion of Li increases with v \textit{sin}i values, as proposed by rotationally-induced depletion models. This suggests that the Li dip consists of fast rotators at young ages whereas the most Li-depleted old stars show lower rotation rates (probably caused by the spin-down during their long lifes). We have also explored the Li evolution with [Fe/H] taking advantage of the metal-rich stars included in our sample. We find that Li abundance reaches its maximum around solar metallicity but decreases in the most metal-rich stars, as predicted by some models of Li Galactic production.Comment: 10 pages, accepted to A&

Mosaicism of alpha-synuclein gene rearrangements: Report of two unrelated cases of early-onset parkinsonism

Dear Sir, In genetics, the term ‘mosaicism’ describes the situation in which groups of cells have a different genetic composition to other cells in an organism. Somatic gene rearrangements due to multiplication or deletion of genes (copy number variation) and/or sections of chromosomes can lead to mosaicism. The presence of multiple copies of the alpha-synuclein gene (SNCA) is known to be associated with Parkinson’s disease (PD) and the severity of symptoms increases with the number of copies of the gene [1]. While the features of PD associated with duplication of SNCA are usually (but not always) typical of the condition [2–3], patients with triplicate copies have atypical features, including rapidly evolving symptoms, severe cognitive impairment, limited response to levodopa, more severe symptoms of dementia and more..

The Role of Native Language and the Fundamental Design of the Auditory System in Detecting Rhythm Changes

Accepted December 13, 2018Purpose: We investigated whether rhythm discrimination is mainly driven by the native language of the listener or by the fundamental design of the human auditory system and universal cognitive mechanisms shared by all people irrespective of rhythmic patterns in their native language. Method: In multiple experiments, we asked participants to listen to 2 continuous acoustic sequences and to determine whether their rhythms were the same or different (AX discrimination). Participants were native speakers of 4 languages with different rhythmic properties (Spanish, French, English, and German) to understand whether the predominant rhythmic patterns of a native language affect sensitivity, bias, and reaction time in detecting rhythmic changes in linguistic (Experiment 2) and in nonlinguistic (Experiments 1 and 2) acoustic sequences. We examined sensitivity and bias measures, as well as reaction times. We also computed Bayes factors in order to assess the effect of native language. Results: All listeners performed better (i.e., responded faster and manifested higher sensitivity and accuracy) when detecting the presence or absence of a rhythm change when the 1st stimulus in an AX test pair exhibited regular rhythm (i.e., a syllable-timed rhythmic pattern) than when the 1st stimulus exhibited irregular rhythm (i.e., stress-timed rhythmic pattern). This result pattern was observed both on linguistic and nonlinguistic stimuli and was not modulated by the native language of the participant. Conclusion: We conclude that rhythm change detection is a fundamental function of a processing system that relies on general auditory mechanisms and is not modulated by linguistic experience.The authors acknowledge support from Spanish Ministry of Economy and Competitiveness Grant PSI2017-82563-P (awarded to A. G. S.), the “Severo Ochoa” Programme for Centres/Units of Excellence in R&D Grant SEV-2015-490 (BCBL), and the Basque Foundation for Science Grant IKERBASQUE (awarded to A. G. S. and M. O.). D. M. G. was supported by Grant PIA/Basal FB0003 from the Chilean Research Council. L. P. was supported by the Spanish Ministry of Economy and Competitiveness via Juan de la Cierva fellowship

A quantum-chemical study of the binding ability of βXaaHisGlyHis towards copper(II) ion

The present study analyzed binding of Cu2+ to tetrapeptides in water solution at several levels of theoretical approximation. The methods used to study the energetic and structural properties of the complexes in question include semiempirical hamiltonians, density functional theory as well as ab initio approaches including electron correlation effects. In order to shed light on the character of interactions between Cu2+ and peptides, which are expected to be mainly electrostatic in nature, decomposition of interaction energy into physically meaningful components was applied

Mendelian Randomization Analysis of the Relationship Between Native American Ancestry and Gallbladder Cancer Risk

Background A strong association between the proportion of Native American ancestry and the risk of gallbladder cancer (GBC) has been reported in observational studies. Chileans show the highest incidence of GBC worldwide, and the Mapuche are the largest Native American people in Chile. We set out to investigate the causal association between Native American Mapuche ancestry and GBC risk, and the possible mediating effects of gallstone disease and body mass index (BMI) on this association. Methods Markers of Mapuche ancestry were selected based on the informativeness for assignment measure and then used as instrumental variables in two-sample mendelian randomization (MR) analyses and complementary sensitivity analyses. Result We found evidence of a causal effect of Mapuche ancestry on GBC risk (inverse variance-weighted (IVW) risk increase of 0.8% for every 1% increase in Mapuche ancestry proportion, 95% CI 0.4% to 1.2%, p = 6.6×10-5). Mapuche ancestry was also causally linked to gallstone disease (IVW risk increase of 3.6% per 1% increase in Mapuche proportion, 95% CI 3.1% to 4.0%, p = 1.0×10-59), suggesting a mediating effect of gallstones in the relationship between Mapuche ancestry and GBC. In contrast, the proportion of Mapuche ancestry showed a negative causal effect on BMI (IVW estimate -0.006 kg/m2 per 1% increase in Mapuche proportion, 95% CI -0.009 to -0.003, p = 4.4×10-5). Conclusions The results presented here may have significant implications for GBC prevention and are important for future admixture mapping studies. Given that the association between Mapuche ancestry and GBC risk previously noted in observational studies appears to be causal, primary and secondary prevention strategies that take into account the individual proportion of Mapuche ancestry could be particularly efficient