MULTIDISCIPLINARY APPROACH AND QUALITY OF LIFE IN PATIENTS WITH SPINA BIFIDA

Introdução: A Espinha Bífida é o defeito mais comum do tubo neural. A abordagem multidisciplinar é a mais adequada para prestar cuidados a estes doentes. Objetivo: Caracterizar a população de crianças seguida na consulta multidisciplinar de Espinha Bífida de um Hospital Terciário. Avaliar a perceção da qualidade de vida das crianças, adolescentes e pais/cuidadores. Correlacionar a qualidade de vida com algumas variáveis estudadas. Métodos: Estudo retrospetivo que incluiu as crianças em seguimento na consulta multidisciplinar de Espinha Bífida. As variáveis analisadas foram: tipo de defeito do tubo neural, regime vesico-esfincteriano e nível funcional. A avaliação da qualidade de vida foi feita através da aplicação do questionário Child Health Questionnaire – Parental Form (CHQ – PF50). O tratamento estatístico foi realizado no programa SPSS, versão 17. Resultados: Foram incluídas no estudo 69 crianças. Os doentes apresentavam uma idade média de 13 anos, sendo 52,2% do sexo masculino. Oitenta e seis por cento tinham diagnóstico de mielomeningocelo, 56,5% efetuavam marcha de forma autónoma e 30,4% eram incontinentes necessitando do uso de fralda. O questionário de qualidade de vida foi respondido pelos pais de 31 doentes. Todos os scores apresentaram valores superiores a 50, sendo que os que revelaram valores menores foram o relativo à função física nas crianças e o referente ao impacto emocional nos pais. Foi encontrada uma correlação estatisticamente significativa entre a capacidade funcional e o componente da escala de qualidade de vida relativo ao funcionamento físico (r = 0,456; p =0,01). Conclusão: As várias manifestações clínicas e complicações associadas a esta condição podem interferir de forma significativa nos vários componentes da qualidade de vida dos doentes e seu núcleo familiar. Este trabalho sublinha a importância da avaliação e intervenção das necessidades das crianças com incapacidade de forma a promover o seu bem-estar físico, psicológico e social.Introduction: Spina Bifida is the most common neural tube defect. Multidisciplinary approach has long been advocated as the optimal way to provide care for these patients. Aim: To characterize the population of children followed in Spina Bifida clinic. To measure health-related quality of the life of children, adolescents and care givers. To correlate quality of life with some studied variables. Methods: Retrospective study that included children followed in Spina Bifida clinic. The variables analyzed were: regarding the type of neural tube defect, bladder-sphincter system and functional level. The quality of life was assessed through the application of the questionnaire Child Health Questionnaire - Parental Form (CHQ – PF50). The statistical analysis was made with SPSS, version 17. Results: The study included 69 children. Patients had a mean age of 13 years, 52.2% male, 86% had a diagnosis of myelomeningocele, 56.5% had independent gait and 30.4% were incontinent and used a diaper. The quality of life questionnaire was completed by 31 parents. All scores were greater than 50, the lowest value in patients was physical function and in parents was emotional impact. We found a statistically significant correlation between functional capacity and physical functioning score on quality of life scale (r = 0.456, p = 0.01). Conclusion: Clinical manifestations and complications of this condition can interfere significantly in the various components of patients’ and families’ quality of life. This study emphasizes the importance of assessment and measurement of needs in children with disabilities in order to promote their physical, psychological and social well-being

New insight into breast cancer cells involving drug combinations for dopamine and serotonin receptors

The breast cancer therapies available are insufficient, especially since first-line treatments, such as paclitaxel, result in drug resistance and their toxicity often limits their concentration. Strategies like drug repurposing are beneficial, and novel treatments can emerge by repurposing drugs that interfere with the dopamine and serotonin receptors, and thus influence tumor growth. In this study, the MTT assay was used to test the efficacy of such repurposed drugs commonly used for neurodegenerative disorders that act on the dopamine and serotonin receptors to reduce the MCF7 cell’s viability, either by their single use or in combination with the reference drug paclitaxel. Furthermore, the expression of vimentin and E-cadherin was assayed by immunofluorescence. The dopamine receptor-altering drugs benztropine and thioridazine resulted in the strongest reduction of cell viability when combined with paclitaxel, which may be connected to the alteration of E-cadherin rather than vimentin expression. More studies are needed to understand the mechanism of action of the combinations tested and the efficacious role of dopamine and serotonin.This work was supported by Fundação para a Ciência e Tecnologia (FCT, Portugal) and FEDER (Fundo Europeu de Desenvolvimento Regional) funds through the COMPETE 2020 Operational Programme for Competitiveness and Internationalisation (POCI), Portugal, in the framework of the project IF/00092/2014/CP1255/CT0004. N.V. thanks Fundação para a Ciência e a Tecnologia (FCT, Portugal) for supporting these studies through nationally-funded projects within the CINTESIS R&D unit (reference UIDB/4255/2020). The contents of this report are solely the responsibility of the authors and do not necessarily represent the official view of the FCT

ON THE EQUIVALENCE AMONG SOME CHIRAL-BOSON THEORIES

We make a comparative study of chiral-boson theories in the Florenani-Jackiw (FJ) and linear constraint formulations. A special attention is given to the case with an improved way of implementing the linear constraint. We show that it has the same spectrum of the FJ formulation.Comment: 11 pages, Late

Wake-up Stroke and Stroke within the Therapeutic Window for Thrombolysis Have Similar Clinical Severity, Imaging Characteristics, and Outcome

BACKGROUND: Wake-up stroke (WUS) represents 25% of all ischemic strokes. There is conflicting evidence concerning clinical severity, imaging characteristics, and outcome when WUS is compared with stroke of known time of onset. Our aim was to compare WUS patients with patients with ischemic stroke within the therapeutic window (STW) for thrombolysis. METHODS: This is a retrospective hospital-based study of all consecutive patients hospitalized for acute ischemic stroke during 2013. Patients with STW, WUS, and WUS with computed tomography (CT)  at 3 hours or less after awakening (WUS≤3h) were selected for the study. The methods used include a review of clinical records, an independent quantification of early signs of ischemia on admission CT scan, and determination of functional outcome on follow-up. RESULTS: Of 554 patients evaluated, 190 had STW, 113 had WUS (20.4%), and 25 had WUS≤3h. Among all WUS patients, 33.6% did not have any other formal contraindication for thrombolysis besides undetermined time of onset. WUS patients had demographic characteristics, vascular risk factors, and clinical severity similar to STW patients. Mild or absent early signs of ischemia on admission CT in WUS≤3h patients were similar to those in STW patients when adjusted for clinical severity (odds ratio [OR] = .50, 95% confidence interval [CI]=.17-1.47). Favorable prognosis in WUS≤3h was similar to STW when adjusted for age, clinical severity, and thrombolysis (OR = .53, 95% CI=.09-3.14). CONCLUSIONS: This study strengthens the evidence that clinical and early imaging characteristics of WUS patients are similar to those of patients with stroke who are eligible for thrombolysis based on the time window criteria, and patients with WUS do not have a worse short outcome

Mitochondrial DNA data of Cabo Verde Immigrant Population Living in Lisboa

Póster apresentado em 8 th International Y Chromosome User Workshop 5 th International EMPOP Meeting, Innsbruck, September 06-08, 2012Mitochondrial DNA (mtDNA) analysis found an important role in forensic genetics, especially when nuclear DNA analysis does not give a conclusive response. It is a powerful tool to exclude samples as originating from the same matriline. Features that increase the vested interest of mtDNA are the high copy number per cell, maternal inheritance, absence of recombination, and high mutation rate. Due to the higher overall mutation rate, the control region is comparatively enriched in sequence variation and therefore its analysis is important to establish haplotypes and haplogroups. Haplogroup assignment became noteworthy to clarify the history and demographic past of a population. As well as occurring all over Europe, in Portugal, and particularly in Lisboa, immigrant populations are increasing. The Instituto Nacional de Medicina Legal e Ciências Forenses is carrying out a comprehensive genetic study with the aim of portraying the genetic diversity of the immigrants who live in Lisboa. Within that objective, the present study intends to: obtain the mtDNA variability of Cabo Verde Immigrant Population Living in Lisboa and classify haplotypes into haplogroups. The studied population shows great interpopulation genetic variability due to the high frequency of unique haplotypes. Cabo Verde immigrants living in Lisboa exhibit haplotypes that belong to haplogroups observed in native Africans and in West Eurasian. MtDNA control region typing is extremely useful as a technique to differentiate among degraded samples frequently found in forensic genetics and to establish its global frequency when having knowledge of the genetic structure of populations.N/

Surfaces mimicking glycosaminoglycans trigger different response of stem cells via distinct fibronectin adsorption and reorganization

We report on the utility of a platform created by self-assembled monolayers to investigate the influence of the degree of sulfation of glycosaminoglycans (GAGs) on their interactions with fibronectin (Fn) and the impact of these interactions on the adhesion and morphology of human adipose derived stem cells (ASCs). We used the label-free QCM-D, AFM and SPR to follow the changes in the protein adlayer in close proximity to the substrates surface and QCM-D in combination with live imaging to characterize the adherent cells. Our results suggest that Fn interactions with GAGs are governed by both H-bonding and electrostatic forces. Strong electrostatic interactions cause irreversible change in the protein conformation, while the weaker H-bonding only partially restricts the protein flexibility, allowing Fn reorganization and exposure of its binding sites for ASC adhesion. These findings imply that a delicate balance between these two types of forces must be considered in the design of biomaterials that mimic GAGs.We acknowledge EU for financial support (FP7/2007-2013, under Grants REGPOT-CT2012-316331-POLARIS and ERC- 2012-ADG-20120216-321266 for the project ComplexiTE). I.P. is thankful to the Portuguese Foundation for Science and Technology (IF/00032/2013). The authors are very grateful to Dr. Raquel Teixeira for her help with the treatment and discussion of the MP-SPR data

3D hydrogel mimics of the tumor microenvironment: the interplay among hyaluronic acid, stem cells and cancer cells

The present work reports on a 3D model of the tumor microenvironment that contains hyaluronic acid (HA) and alginate, and demonstrates the utility of this model to study the effect of HA size on the crosstalk between cancer cells and mesenchymal stem cells (MSCs). The system incorporates a core that contains HA of specific size (i.e. 6.4, 741 or 1500 kDa) with encapsulated epithelial MKN45 cancer cells and a shell with MSCs that mimic the presence of stem cells next to the tumor site. It was found that short HA (i.e. 6.4 kDa) promotes the invasion of cancer cells from the core to the shell, whereas longer HA (i.e. 741 and 1500 kDa) recruits the MSCs into the core, i.e. the tumor site, where a reduction of the formation of cancer cell aggregates was observed. In summary, the developed 3D model recapitulates some key tumor features related to the effect of HA size on both cancer cell invasiveness and MSC behavior at the tumor site.We acknowledge the financial support from the European Commission and the Horizon 2020 - WIDESPREAD programme, under the grant agreement number #668983-FORECAST. SA acknowledges the Portuguese Foundation for Science and Technology for her PhD grant (SFRH/BD/112075/2015)

Structures and Vibrational Spectra of CH,OCH,CH,OH : The

Ab initio calculations at the MP2/6-31G* and MP2/6-31G*//6-31G* levels have been carried out for the monomer of 2-methoxyethanol (CH,OCH,CH,OH). The MP2/6-31G* results indicate that the two more stable conformers (tGg’ and gGg‘) display intramolecular hydrogen bonds directed from the hydroxy H atom to one of the lone pairs of the ether 0 atom, and that the tGg’ conformer is 6.3 kJ mol-’ more stable than the gGg’ conformer. As the MP2/6-31G* and MP2/6-3lG*//6-31G* calculations do not yield results differing by more than a few tenths of a kJ mol-‘, it is concluded that the structure-sensitive and the dynamic correlation corrections are far from being additive. While the optimization of geometry for the correlated wavefunction generally leads to increase of bond lengths and reduction of bond angles, on the whole the geometrical parameters undergo similar changes in different conformers. Ab initio harmonic 6-31G* derived force fields were used to perform normal mode analyses for the more stable conformers. The calculated v(CH) frequencies are found to correlate linearly with some of the ab initio calculated CH bond lengths. An interpretation of the FTIR and Raman spectra for the liquid phase consonant with the structural and vibrational ab initio results is presented. Two spectral features observed both in Raman and in FTIR spectra and associated with v(0H) in monomeric species are ascribed to conformers, in accord with the theoretical and experimental results. On the whole, both the structural and the vibrational results presented point to a distinction between the hydrogen-bonded G-type conformers (tGg’ and gGg‘) and the higher energy T-type conformers (tTg and tTt)