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

Porous carbons-derived from vegetal biomass in the synthesis of quinoxalines. Mechanistic insights.

We report herein for the first-time acid biomass-derived carbons from vegetal biomass, with high developed porosity, prepared through the integrating method comprising pyrolysis and surface phosphonation, able to efficiently catalyze the synthesis of quinoxalines from 1,2-diamines and -hydroxi ketones, under aerobic conditions. The obtained results indicate that the type and number of acid sites drive the reaction in terms of conversion and selectivity. Furthermore, our experimental and theoretical observations suggest that the preferred reaction pathway for this transformation, in the presence of the investigated acid carbon catalysts, involves cascade reactions including imination reaction between reactants, successive imine-enamine and ceto-enol tautomerisms, heterocyclization followed by dehydration, and aromatization. While the acid sites seem to be a relevant role in each reaction step, the system formed by activated carbon and molecular oxygen could be behind the last oxidative reaction to give quinoxalines.pre-print615 K

Characterizing and predicting person-specific, day-to-day, fluctuations in walking behavior

Despite the positive health effect of physical activity, one third of the world's population is estimated to be insufficiently active. Prior research has mainly investigated physical activity on an aggregate level over short periods of time, e.g., during 3 to 7 days at baseline and a few months later, post-intervention. To develop effective interventions, we need a better understanding of the temporal dynamics of physical activity. We proposed here an approach to studying walking behavior at "high-resolution" and by capturing the idiographic and day-to-day changes in walking behavior. We analyzed daily step count among 151 young adults with overweight or obesity who had worn an accelerometer for an average of 226 days (~25,000 observations). We then used a recursive partitioning algorithm to characterize patterns of change, here sudden behavioral gains and losses, over the course of the study. These behavioral gains or losses were defined as a 30% increase or reduction in steps relative to each participants' median level of steps lasting at least 7 days. After the identification of gains and losses, fluctuation intensity in steps from each participant's individual time series was computed with a dynamic complexity algorithm to identify potential early warning signals of sudden gains or losses. Results revealed that walking behavior change exhibits discontinuous changes that can be described as sudden gains and losses. On average, participants experienced six sudden gains or losses over the study. We also observed a significant and positive association between critical fluctuations in walking behavior, a form of early warning signals, and the subsequent occurrence of sudden behavioral losses in the next days. Altogether, this study suggests that walking behavior could be well understood under a dynamic paradigm. Results also provide support for the development of "just-in-time adaptive" behavioral interventions based on the detection of early warning signals for sudden behavioral losses

Altered gene expression in human placenta after suspected preterm labour

Introduction Suspected preterm labour occurs in around 9% of pregnancies. However, almost two-thirds of women admitted for threatened preterm labour ultimately deliver at term and are considered risk-free for fetal development. Methods We examined placental and umbilical cord blood samples from preterm or term deliveries after threatened preterm labour as well as term deliveries without threatened preterm labour. We quantitatively analysed the mRNA expression of inflammatory markers (IL6, IFN?, and TNFa) and modulators of angiogenesis (FGF2, PGF, VEGFA, VEGFB, and VEGFR1). Results A total of 132 deliveries were analysed. Preterm delivery and term delivery after suspected preterm labour groups showed similar increases in TNFa expression compared with the term delivery control group in umbilical cord blood samples. Placental samples from preterm and term deliveries after suspected preterm labour exhibited significantly increased expression of TNFa and IL6 and decreased expression of IFN?. Suspected preterm labour was also associated with altered expression of angiogenic factors, although not all differences reached statistical significance. Discussion We found gene expression patterns indicative of inflammation in human placentas after suspected preterm labour regardless of whether the deliveries occurred preterm or at term. Similarly, a trend towards altered expression of angiogeneic factors was not limited to preterm birth. These findings suggest that the biological mechanisms underlying threatened preterm labour affect pregnancies independently of gestational age at birth

Probabilidade de acontecimentos envolvendo aspetos lógicos

In this article, we study the Probability's knowledge of prospective primary school teachers, when there are logical aspects involved in the formulation of events. Forty-six students participated in the study, from a University in Northern Portugal, who had to resolve a three-item task in the context of a formal evaluation: the first one, on the union probability (connective or), the second one, on the joint probability (connective and), and the third one, on the conditional probability, in which the conditioned event is, in turn, a joint probability (connective and). In terms of the main results of the study, it was found that the students showed a very limited performance, frequently changing the connectives and and or, the inclusive disjunction with the exclusive disjunction and in the disjunction considered as incompatible non-disjoint events.Neste artigo estuda-se o conhecimento de Probabilidades de futuros professores dos primeiros anos escolares, quando na formulação dos acontecimentos estão envolvidos aspetos lógicos. Participaram no estudo 46 alunos da Licenciatura em Educação Básica, de uma Universidade do Norte de Portugal, os quais resolveram uma tarefa, com três itens, em contexto de avaliação formal: o primeiro sobre a probabilidade da reunião (conetivo ), o segundo sobre a probabilidade conjunta (conetivo ) e o terceiro sobre a probabilidade condicionada, em que o acontecimento condicionado é, por sua vez, uma probabilidade conjunta (conetivo ). Em termos dos principais resultados do estudo, verificou-se que os alunos revelaram um desempenho muito limitado, trocando, frequentemente, os conetivos e , a disjunção inclusiva com a disjunção exclusiva e na disjunção consideraram como sendo incompatíveis acontecimentos não disjuntos.Este trabalho contou com o apoio de Fundos Nacionais através da FCT – Fundação para a Ciência e a Tecnologia no âmbito do projeto PEst-OE/CED/UI1661/2014, do CIEd-UM e do projeto UID/Multi/04016/2016

Associations between reliable changes in depression and changes in BMI, total body fatness and visceral adiposity during a 12-month weight loss trial.

We investigated associations between changes in depression and body composition over a 12-month weight loss trial. Of the 298 adults (BMI > 27 m/kg2), 219 with complete depression and body composition data were included. A 10-item Center for Epidemiologic Studies Depression Scale measured depression; dual-energy X-ray absorptiometry measured body composition. Multinomial logistic regression predicted reliable changes in depression by BMI, body fat (BF) and visceral adiposity (VAT). Multiplicative interaction terms tested modification by sex and ethnicity. Participants with increases in body composition were less likely to experience improvements in depression (BMI: RRR = 0.79 (0.68-0.91), p < 0.01; BF: RRR = 0.97 (0.94 - 0.99), p = 0.01; VAT: RRR = 0.99 (0.98-1.00), p = 0.02), but not worsening of depression (BMI: RRR = 1.29 (0.96-1.73), p = 0.10; BF: RRR = 1.04 (0.99-1.09), p = 0.15; VAT: RRR = 1.01 (1.00-1.03), p = 0.18). Sex and ethnicity interaction terms were not significant. However, the relationship was only significant among females, among non-Latinos for BMI and BF, and among Latinos for VAT. Our study supports the association between depression and obesity and highlights the need for longitudinal studies investigating VAT and depression in diverse ethnic groups

MedivozCaptura. Una aplicación en red segura de ayuda al profesional de ORL

MedivozCaptura es una herramienta informática desarrollada para asistir al análisis y detección de patologías vocales. Se basa en el almacenamiento en una base de datos relacional de señales de voz, electroglotogramas (EGG) y vídeoendoscopias, además de otros datos sobre los pacientes que los especialistas puedan considerar relevantes. El presente documento describe el funcionamiento de la aplicación de forma distribuida en red, con la base de datos centralizada, así como la problemática de seguridad y rendimiento que supone la distribución a través de la red o Internet y cómo se solventa en MedivozCaptur

The treatment of peri-implant diseases: A new approach using HYBENX® as a decontaminant for implant surface and oral tissues

Background: Peri-implantitis is a pathological condition characterized by an inflammatory process involving soft and hard tissues surrounding dental implants. The management of periimplant disease has several protocols, among which is the chemical method HYBENX®. The aim of this study is to demonstrate the efficacy of HYBENX® in the treatment of peri-implantitis and to compare HYBENX® with other chemical agents used in the surgical treatment of peri-implantitis. Methods: The present study included a population of ten subjects with severe peri-implantitis. The procedure used in the study involves the application of HYBENX® after open-flap debridement. Each patient has been followed for 12 months after a single application of the decontaminant agent. Clinical and radiographical parameters were recorded at baseline, 3 months, and 12 months after treatment completion. Results: At baseline, a mean pocket probing depth (PPD) of 7.3 - 0.5 mm and a mean clinical attachment level (CAL) of 8.8 - 0.8 mm was recorded. An average residual PPD of 4.2 - 0.5 mm and a mean CAL of 5.2 - 0.8 mm were observed after 1 year. Additionally, the average of bone gain was about 3.4 mm, with a mean marginal bone level (MBL) change from 5.8 mm (baseline) to 2.4 mm (12 months). In total, 90% of the treated implants reached the success rate after the 1-year follow-up. Only in one case out of ten treated implants was resolution of the disease not achieved. Conclusion: Clinical improvements highlight that the procedure of open-flap debridement (OFD) + HYBENX® may be considered an effective technique in the treatment of peri-implantitis. From the results obtained, it can be concluded that the use of HYBENX® in the surgical treatment of peri-implantitis is promising. Overall, this protocol demands further studies to better understand the role and potential benefits of HYBENX® in the treatment of peri-implantitis

Simulación computacional de flujos multifásicos utilizando el modelo euleriano en problemas dominados por la boyancia de la fase dispersa

En la industria nuclear, los flujos multifásicos juegan un papel preponderante, y su comprensión es de gran importancia para garantizar un correcto modelado de aquellos proceso donde intervienen. Históricamente la asistencia computacional a sido exclusiva de los conocidos códigos de sistema. Estos permiten resolver de forma simplificada la termohidráulica, la neutrónica y el control de planta involucrados; pero se limitan a una descripción macroscópica de los fenómenos, valiéndose de correlaciones empíricas para describir estos flujos. Mediante la utilización de la dinámica de fluidos computacional (CFD) es posible predecir flujos multifásicos con una resolución espacial mucho mas detallada, permitiendo de esta forma aportar una nueva herramienta que se complemente con los códigos de sistema. La contribución de este trabajo se centra en estudiar los flujo multifásicos mediante un modelo Euleriano utilizando la plataforma OpenFOAM(R). De esta forma, se han realizado simulaciones transitorias de modelos 2D y 3D para diferentes casos de validación analizando enfáticamente la sensibilidad de las fuerzas interfaciales (drag, lift, dispersión turbulenta y masa virtual), ademas de los efectos de dispersión y de turbulencia. Se ha estudiado también los diferentes patrones de flujos para una amplia gama de velocidades superficiales de la fase gaseosa, destacando la importancia de elegir correctamente los modelos de arrastre de acuerdo al tamaño de las burbujas. Los resultados obtenidos del CFD se compararon con lo reportado en forma experimental como así también con los modelos utilizado en los códigos de sistemas termohidráulicos.Publicado en: Mecánica Computacional vol. XXXV, no. 18Facultad de Ingenierí