Body composition, muscle strength, functional capacity, and physical disability risk in liver transplanted familial amyloidotic polyneuropathy patients

Abstract: Background: Familial amyloidotic polyneuropathy (FAP) is a neurodegenerative disease leading to sensory and motor polyneuropathies, and functional limitations. Liver transplantation is the only treatment for FAP, requiring medication that negatively affects bone and muscle metabolism. The aim of this study was to compare body composition, levels of specific strength, level of physical disability risk, and functional capacity of transplanted FAP patients (FAPTx) with a group of healthy individuals (CON). Methods: A group of patients with 48 FAPTx (28 men, 20 women) was compared with 24 CON individuals (14 men, 10 women). Body composition was assessed by dual-energy X-ray absorptiometry, and total skeletal muscle mass (TBSMM) and skeletal muscle index (SMI) were calculated. Handgrip strength was measured for both hands as was isometric strength of quadriceps. Muscle quality (MQ) was ascertained by the ratio of strength to muscle mass. Functional capacity was assessed by the six-minute walk test. Results: Patients with FAPTx had significantly lower functional capacity, weight, body mass index, total fat mass, TBSMM, SMI, lean mass, muscle strength, MQ, and bone mineral density. Conclusion: Patients with FAPTx appear to be at particularly high risk of functional disability, suggesting an important role for an early and appropriately designed rehabilitation program.

Características psicométricas dos instrumentos usados para avaliar a qualidade de vida na esclerose múltipla: uma revisão bibliográfica

A esclerose múltipla (EM) é a doença crónica neurológica que mais afeta adultos jovens; em 80% dos casos, a doença progride para situações de níveis variados de incapacidade, o que torna necessário avaliar a qualidade de vida (QV) desses indivíduos. O objetivo desta revisão foi localizar estudos que avaliam a QV em indivíduos com EM, identificando os instrumentos utilizados e suas características psicométricas. Foram consultadas as bases Psycinfo, Psycarticles, Psycbooks, Psychology & Behavioral Science Collection, EJS E-Journal, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, Database of Abstracts of Reviews of Effects, Medline, e Academic Search Complete, utilizando os descritores 'multiple sclerosis' e 'quality of life', para localizar artigos publicados no período 1997-2007. Foram selecionados 1.376 artigos e, após a leitura dos resumos, excluídos os referentes a instrumentos que não tinham boas características psicométricas e/ou eram pouco referenciados. Foram encontrados 461 artigos, dos quais 267 usaram instrumentos genéricos e 194 específicos para a EM. Dos 7 instrumentos (2 genéricos, 5 específicos) com boas características psicométricas utilizados pelos estudos consultados, o mais usado é o SF-36 (em 237 estudos). Todos os instrumentos têm validade verificada e apresentam grau elevado de confiabilidade, podendo ser utilizados para avaliação da qualidade de vida de pacientes com EM tanto em pesquisa quanto na clínica. ABSTRACT - Multiple sclerosis (MS) is the chronic neurological disease that most affects young adults; 80% of patients experience a transition towards persistent disability, hence the need to assess their quality of life (QoL). The aim of the study was to review studies that assess QoL in patients with multiple sclerosis, inquiring on the instruments used and their psychometric features. Articles published from 1997 through 2007 were searched for by means of key words 'multiple sclerosis' and 'quality of life' in databases Psycinfo, Psycarticles, Psycbooks, Psychology & Behavioral Science Collection, EJS E-Journal, Cochrane Central Register of Controlled Trials, Cochrane Database of Systematic Reviews, Database of Abstracts of Reviews of Effects, Medline, and Academic Search Complete. From the 1,376 studies found, after abstract reading those that reported on instruments with poor psychometric properties and/or were little referred were excluded. A total of 461 articles were selected, of which 267 reported using generic instruments and 194, MS-specific ones. Among the 7 instruments reported by the studies as having good psychometric characteristics (2 generic, five MS-specific), the most used is the SF-36 (by 237 studies). All instruments have shown adequate psychometric properties and a high degree of reliability, hence may be used to assess QoL in subjects with multiple sclerosis both in clinic and research.

A importância de um programa de atividade física em doentes com esclerose múltipla na satisfação com a vida e bem-estar psicológico

A Esclerose Múltipla (EM) é uma doença crónica do sistema nervoso central, que afeta com mais frequentemente mulheres jovens. A EM é uma doença progressiva e imprevisível, resultando em alguns casos de incapacidades e limitações a nível físico, psicológico e social. Este estudo tem como objetivo verificar o efeito de um programa de intervenção para a promoção da atividade física (PIPAF) em indivíduos com EM no bem-estar psicológico (BEP) e na satisfação com a vida (SV). Métodos – É um estudo quasi-experimental. Utilizamos a escala de satisfação com a vida (7 itens) e a componente BEP do inventário de saúde mental (14 itens). O estudo inclui 24 doentes EM com idade média de 44 anos, 58,3% são mulheres, 37,5% são casados, 67% estão reformados, a média de escolaridade é de 12,5 anos, sendo a EM diagnosticada há pelo menos um ano. O programa consiste numa intervenção para a promoção da atividade física em grupos de oito pessoas, semanalmente, durante 90 minutos, em sete semanas. Para analisar os resultados utilizamos o programa SPSS, versão 20. Resultados – Utilizamos o teste Wilcoxon para as variáveis BEP e a SV, obtido a partir da avaliação antes do programa de intervenção e no final do programa. Verificamos que houve alterações significativas entre os dois tempos p <0,01, em ambas as variáveis, com resultados mais elevados no final do programa de intervenção. Discussão/Conclusão – Através da leitura dos resultados podemos verificar que a implementação do PIPAF, em doentes com EM, utilizando um modelo holístico e integrado numa perspetiva biopsicossocial, melhora a SV e a BEP destes doentes.

Binocular vision and reading ability in a Portuguese population of school age children

Preventable visual loss caused by amblyopia (2 to 4%) and its risk factors such as strabismus (3%) and uncorrected refractive errors (5 to 7%) represent an important public health problem. Children with binocular vision anomalies could be at disadvantage in reading and writing. Objectives: (1) Describe binocular vision measures in children of school age; and (2) Describe the impact of abnormal binocular vision on reading ability (reading errors and reading speed).

Disruption and phenotypic analysis of six open reading frames from chromosome VII of Saccharomyces cerevisiae reveals one essential gene

Six open reading frames (ORFs) located on chromosome VII of Saccharomyces cerevisiae (YGR205w, YGR210c, YGR211w, YGR241c, YGR243w and YGR244c) were disrupted in two different genetic backgrounds using short-flanking homology (SFH) gene replacement. Sporulation and tetrad analysis showed that YGR211w, recently identified as the yeast ZPR1 gene, is an essential gene. The other five genes are non-essential, and no phenotypes could be associated to their inactivation. Two of these genes have recently been further characterized: YGR241c (YAP1802) encodes a yeast adaptor protein and YGR244c (LSC2) encodes the b-subunit of the succinyl-CoA ligase. For each ORF, a replacement cassette with long flanking regions homologous to the target locus was cloned in pUG7, and the cognate wild-type gene was cloned in pRS416.

Analysis of a 17.9 kb region from Saccharomyces cerevisiae chromosome VII reveals the presence of eight open reading frames, including BRF1 (TFIIIB70) and GCN5 genes

We report the nucleotide sequence of a 17,893 bp DNA segment from the right arm of Saccharomyces cerevisiae chromosome VII. This fragment begins at 482 kb from the centromere. The sequence includes the BRF1 gene, encoding TFIIIB70, the 5' portion of the GCN5 gene, an open reading frame (ORF) previously identified as ORF MGA1, whose translation product shows similarity to heat-shock transcription factors and five new ORFs. Among these, YGR250 encodes a polypeptide that harbours a domain present in several polyA binding proteins. YGR245 is similar to a putative Schizosaccharomyces pombe gene, YGR248 shows significant similarity with three ORFs of S. cerevisiae situated on different chromosomes, while the remaining two ORFs, YGR247 and YGR251, do not show significant similarity to sequences present in databases.

Sequencing of a 9.9 kb segment on the right arm of yeast chromosome VII reveals four open reading frames, including PFK1, the gene coding for succinyl-CoA synthetase (beta-chain) and two ORFs sharing homology with ORFs of the yeast chromosome VIII

A 9.9 kb DNA fragment from the right arm of chromosome VII of Saccharomyces cerevisiae has been sequenced and analysed. The sequence contains four open reading frames (ORFs) longer than 100 amino acids. One gene, PFK1, has already been cloned and sequenced and the other one is the probable yeast gene coding for the beta-subunit of the succinyl-CoA synthetase. The two remaining ORFs share homology with the deduced amino acid sequence (and their physical arrangement is similar to that) of the YHR161c and YHR162w ORFs from chromosome VIII.

The complete sequence of a 9000 bp fragment of the right arm of Saccharomyces cerevisiae chromosome VII contains four previously unknown open reading frames

We report the sequence of a 9000 bp fragment from the right arm of Saccharomyces cerevisiae chromosome VII. Analysis of the sequence revealed four complete previously unknown open reading frames, which were named G7587, G7589, G7591 and G7594 following standard rules for provisional nomenclature. Outstanding features of some of these proteins were the homology of the putative protein coded by G7589 with proteins involved in transcription regulation and the transmembrane domains predicted in the putative protein coded by G7591.

Do close reading à encenação: Frei Luís de Sousa

O presente artigo teve origem num texto escrito para o programa do espectáculo Frei Luís de Sousa, com encenação de Carlos Avilez, no Teatro Nacional D. Maria II, na abertura das Comemorações do Bicentenário do nascimento de Almeida Garrett.

Reading performance in children with visual function anomalies

Aims - To compare reading performance in children with and without visual function anomalies and identify the influence of abnormal visual function and other variables in reading ability. Methods - A cross-sectional study was carried in 110 children of school age (6-11 years) with Abnormal Visual Function (AVF) and 562 children with Normal Visual Function (NVF). An orthoptic assessment (visual acuity, ocular alignment, near point of convergence and accommodation, stereopsis and vergences) and autorefraction was carried out. Oral reading was analyzed (list of 34 words). Number of errors, accuracy (percentage of success) and reading speed (words per minute - wpm) were used as reading indicators. Sociodemographic information from parents (n=670) and teachers (n=34) was obtained. Results - Children with AVF had a higher number of errors (AVF=3.00 errors; NVF=1.00 errors; p<0.001), a lower accuracy (AVF=91.18%; NVF=97.06%; p<0.001) and reading speed (AVF=24.71 wpm; NVF=27.39 wpm; p=0.007). Reading speed in the 3rd school grade was not statistically different between the two groups (AVF=31.41 wpm; NVF=32.54 wpm; p=0.113). Children with uncorrected hyperopia (p=0.003) and astigmatism (p=0.019) had worst reading performance. Children in 2nd, 3rd, or 4th grades presented a lower risk of having reading impairment when compared with the 1st grade. Conclusion - Children with AVF had reading impairment in the first school grade. It seems that reading abilities have a wide variation and this disparity lessens in older children. The slow reading characteristics of the children with AVF are similar to dyslexic children, which suggest the need for an eye evaluation before classifying the children as dyslexic.

Alice's anima or the obligation of a reading transliteracy

This paper suggests an analysis of "Inanimate Alice" by Kate Pullinger, Chris Joseph and Ian Harper as an example of a transmedia narrative that triggers a new reading experience whilst proposing a literary alterity between reading and performance. Narrative experiences that elect the visual plasticity, interchanging games and tactility as drivers of the creative process are not new. Yet, narrative experiences, which have been created in the gap between reality and fiction, have found on the digital realm the perfect environment to multiple hybrid experiences. Bearing in mind Walter Benjamin’s concept of Erlebnis and Erfahrung, a critical analysis of this digital fiction tries to illustrate how literary art finds its space and time in a metamorphosed continuum only activated by the “patient reader”. All the multimedia hybrids, which this digital literary work may have, challenge readers to interpret different signals and poetic structures that most of readers might not be accustomed to; however even among a cognitive dissonance, meaning is found and reading happens only if time, space and attention are available. All possible transmedia literacies can only respond to this experience of online reading, if they are able to focus and draw attention not to a simple new behaviour or a single new practice, but to a demanding state of affairs that assemble different objective and subjective value forms.