Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism

Dyspigmentation along the Blaschko lines is strongly suggestive of a mosaic skin disorder. We report a 9-year-old male patient who presented with swirls and streaks of both hypo and hyperpigmentation involving the entire body. Additionally, he had hypertrichosis, musculoskeletal and minor neurodevelopment abnormalities but no intellectual disability. Cultured fibroblast displayed trisomy 7 mosaicism, which can explain this pigmentary phenotype. Widespread dyspigmentation associated with involvement of other organs should prompt systemic examination to detect additional anomalies and genetic evaluation should be considered, even with normal fetal karyotype.info:eu-repo/semantics/publishedVersio

Electrocardiography in hypertensive patients without cardiovascular events: a valuable predictor tool?

Background. Hypertension is an important risk factor of cardiovascular (CV) disease. An early diagnosis of target organ damage could prevent major CV events. Electrocardiography (ECG) is a valuable clinical technique, with wide availability and high speci city, used in evaluation of hypertensive patients. However, the use of ECG as a predictor tool is controversial given its low sensitivity. is study aims to characterise ECG features in a hypertensive population and identify ECG abnormalities that could predict CV events. Methods. We studied 175 hypertensive patients without previous CV events during a follow-up mean of 4.0 ± 2.20 years. ECGs and pulse wave velocity were performed in all patients. Clinical characteristics and ECG abnormalities were evaluated and compared between the patients as they presented CV events. Results. Considering the 175 patients (53.14% male), the median age was 62 years. Median systolic blood pressure was 140 mmHg and diastolic blood pressure was 78 mmHg. Median PWV was 9.8 m/s. Of the patients, 39.4% were diabetic, 78.3% had hyperlipidaemia, and 16.0% had smoking habits. ECG identi ed left ventricular (LV) hypertrophy in 29.71% of the patients, and a LV strain pattern was present in 9.7% of the patients. Twenty-nine patients (16.57%) had a CV event. Comparative analyses showed statistical signi cance for the presence of a LV strain pattern in patients with CV events (p 0.01). Univariate and multivariate analysis con rmed that a LV strain pattern was an independent predictor of CV event (HR 2.66, 95% IC 1.01–7.00). In the survival analysis, the Kaplan–Meier curve showed a worse prognosis for CV events in patients with a LV strain pattern (p 0.014). Conclusion. ECG is a useful daily method to identify end-organ damage in hypertensive patients. In our study, we also observed that it may be a valuable tool for the prediction of CV events.publishe

Size-dependent bandgap and particle size distribution of colloidal semiconductor nanocrystals

A new analytical expression for the size-dependent bandgap of colloidal semiconductor nanocrystals is proposed within the framework of the finite-depth square-well effective mass approximation in order to provide a quantitative description of the quantum confinement effect. This allows one to convert optical spectroscopic data (photoluminescence spectrum and absorbance edge) into accurate estimates for the particle size distributions of colloidal systems even if the traditional effective mass model is expected to fail, which occurs typically for very small particles belonging to the so-called strong confinement limit. By applying the reported theoretical methodologies to CdTe nanocrystals synthesized through wet chemical routes, size distributions are inferred and compared directly to those obtained from atomic force microscopy and transmission electron microscopy. This analysis can be used as a complementary tool for the characterization of nanocrystal samples of many other systems such as the II-VI and III-V semiconductor materials.Comment: 9 pages, 5 figure

Photoinduced ordering and anchoring properties of azo-dye films

We study both theoretically and experimentally anchoring properties of photoaligning azo-dye films in contact with a nematic liquid crystal depending on photoinduced ordering of azo-dye molecules. In the mean field approximation, we found that the bare surface anchoring energy linearly depends on the azo-dye order parameter and the azimuthal anchoring strength decays to zero in the limit of vanishing photoinduced ordering. From the absorption dichroism spectra measured in the azo-dye films that are prepared from the azo-dye derivative with polymerizable terminal groups (SDA-2) we obtain dependence of the dichroic ratio on the irradiation dose. We also measure the polar and azimuthal anchoring strengths in nematic liquid crystal (NLC) cells aligned by the azo-dye films and derive the anchoring strengths as functions of the dichroic ratio. Though linear fitting of the experimental data for both anchoring strengths gives reasonably well results, it, in contradiction with the theory, predicts vanishing of the azimuthal anchoring strength at certain nonzero value of the azo-dye order parameter. By using a simple phenomenological model we show that this discrepancy can be attributed to the difference between the surface and bulk order parameters in the films.Comment: revtex4, 25 pages, 9 figure

Polyphasic characterization of gluconacetobacter diazotrophicus isolates obtained from different sugarcane varieties

Parceria: UFRJ; UFRRJ; UENF

Reductive activation and structural rearrangement in superoxide reductase: a combined infrared spectroscopic and computational study

Superoxide reductases (SOR) are a family of non-heme iron enzymes that limit oxidative stress by catalysing the reduction of superoxide to hydrogen peroxide and, thus, represent model systems for the detoxification of reactive oxygen species. In several enzymes of this type, reductive activation of the active site involves the reversible dissociation of a glutamate from the proposed substrate binding site at the iron. In this study we have employed IR spectroscopic and theoretical methods to gain insights into redox-linked structural changes of 1Fe-type superoxide reductases, focusing on the enzyme from the archaeon Ignicoccus hospitalis. Guided by crystal structure data and complemented by spectra calculation for an active site model, the main IR difference signals could be assigned. These signals reflect redox-induced structural changes in the first coordination sphere of the iron centre, adjacent loop and helical regions, and more remote β-sheets. By comparison with the spectra obtained for the E23A mutant of Ignicoccus hospitalis SOR, it is shown that glutamate E23 dissociates reversibly from the ferrous iron during reductive activation of the wild type enzyme. Moreover, this process is found to trigger a global conformational transition of the protein that is strictly dependent on the presence of E23. Similar concerted structural changes can be inferred from the IR spectra of related SORs such as that from Archaeoglobus fulgidus, indicating a widespread mechanism. A possible functional role of this process in terms of synergistic effects during reductive activation of the homotetrameric enzyme is proposed.DFG, EXC 314, Unifying Concepts in Catalysi

Spin 1 fields in Riemann-Cartan space-times "via" Duffin-Kemmer-Petiau theory

We consider massive spin 1 fields, in Riemann-Cartan space-times, described by Duffin-Kemmer-Petiau theory. We show that this approach induces a coupling between the spin 1 field and the space-time torsion which breaks the usual equivalence with the Proca theory, but that such equivalence is preserved in the context of the Teleparallel Equivalent of General Relativity.Comment: 8 pages, no figures, revtex. Dedicated to Professor Gerhard Wilhelm Bund on the occasion of his 70th birthday. To appear in Gen. Rel. Grav. Equations numbering corrected. References update

Avaliação genômica de touros Hereford e Braford.

Seleção genômica; Metodologia unificada para predizer os valores genéticos genômicos; Características apresentadas neste sumário; Como interpretar o sumário; Tabela de touros Braford; Tabela de touros Hereford; Estâncias que participaram do presente trabalho; Equipe participante do projeto.bitstream/item/81082/1/Dt-127.pd