Role of Neonatal Hearing Screening Programme in the Auditory Rehabilitation of Children

Objectivos: Determinar a influência da implementação do rastreio auditivo neonatal universal na referenciação de crianças com hipoacúsia a uma consulta de reabilitação auditiva. Métodos: Contexto – consulta de reabilitação auditiva num centro de referenciação terciário em Lisboa; Desenho do estudo – estudo de coorte retrospectivo baseado nos dados de processos clínicos de crianças com surdez. População – todos os processos de crianças nascidas a partir de 1998 (437 no total) foram analisados, resultando na selecção de 322 crianças que cumpriam os critérios de inclusão. Resultados: A idade média de referenciação à consulta tem vindo a diminuir de 55 meses (1998-2000) para 12 meses (2007-2009). Em 3/4 dos doentes o motivo de referenciação é hipoacúsia ou alterações nos programas de rastreio auditivo neonatal. Conclusão: O rastreio auditivo neonatal tem permitido iniciara reabilitação auditiva de crianças com hipoacúsia mais cedo. É importante manter este programa a funcionar para garantir a reabilitação precoce de crianças com perda auditiva.info:eu-repo/semantics/publishedVersio

Ocorrência de espécies daninhas em lavouras de soja convencional.

JIPE 2013

Predictors of first-line treatment persistence in a Portuguese cohort of relapsing-remitting multiple sclerosis

Treatment persistence in first-line injectable disease-modifying therapies (DMT) for relapsing-remitting multiple sclerosis (RRMS) is an important indicator of effectiveness. Identifying predictors of treatment discontinuation is important as there are other therapies currently available and a growing range of emerging drugs. We report a retrospective study of RRMS and clinically isolated syndrome patients followed in a University Hospital during a 13-year period with the objective of identifying predictors of treatment persistence. An evaluation of persistence on the first DMT, rates of DMT discontinuation, and reasons and predictors of discontinuation was performed. A total of 410 patients were included, 69% female, with mean disease duration of 37.8months, mean age of 34.2years and mean follow-up time of 6.1years. The first DMT was glatiramer acetate (GA) in 27.56% of patients, interferon (IFN) β-1a intramuscular in 26.34%, IFNβ-1b in 26.10%, IFNβ-1a22 in 13.66% and IFNβ-1a44 in 6.34%. Treatment was discontinued in 16.34% of patients after 1year of treatment and in 50.24% of patients in the total follow-up time, with a mean time for discontinuation of 39.80months. Higher baseline Expanded Disability Status Scale score was an independent predictor of treatment discontinuation (hazard ratio 1.35, p=0.002). After the first year, treatment persistence was 90.74% for IFNβ-1a-IM, 88.46% for IFNβ-1a44, 83.18% for IFNβ-1b, 83.19% for GA and 69.64% for IFNβ-1a22 (p=0.014). Lower frequency of administration was associated with higher persistence rates. The most common reason for treatment discontinuation was lack of efficacy in all DMT subgroups.info:eu-repo/semantics/publishedVersio

Microarray in clinical practice – utility vs complexity. Mixed phenotype of duplication 15q11.2q13.1 and deletion 16p11.2

Introduction: There’s a consensus to perform chromosomal microarray technique as first-tier clinical diagnostic test for individuals with developmental disabilities. However, given the complexity of clinical presentations, often several diagnostic methods are held before conducting microarray. Method: We report the case of a 5 year-old boy referred to Medical Genetics due to short stature, developmental disabilities and facial dysmorphic features. He was born from eutocic delivery after an uneventful pregnancy. He had psychomotor milestones delayed like sitting at 9 months and walking at 24 months, holding an immature broad-based gait. There was history of learning difficulties from both parents, and the mother has also short stature. On examination it was noted some facial dysmorphic features like high forehead, conical canines and rarefaction of the distal portion of the eyebrows. Due to the history of an episode of transient ataxia, and suspicion of an inherited metabolic disorder, he had already performed various analytical and imaging screenings, all normal. Results: Chromosomal microarray analysis revealed two pathogenic Copy Number Variants (CNV’s): 16p11.2 deletion and 15q11.2q13.1 duplication. The 15q11q13 microduplication syndrome (OMIM # 608636) is a very rare clinical entity with about 30 reported cases with maternal origin, and it is characterized by neurobehavioral disorder, hypotonia, cognitive impairment, epilepsy and short stature. The 16p11.2 microdeletion syndrome (OMIM # 613444) is also a rare clinical entity, with high penetrance, associated with obesity and developmental disabilities. Discussion: Despite the unquestionable utility of microarray, the correlation of the CNV's with the phenotype is often difficult by the rarity of these new microdeletion/duplication clinical entities. In this case the interpretation has increased difficulty because of the simultaneous existence of two distinct clinical entities. Segregation studies, which in the first step include parental analysis, are essential for genetic counseling and determining the risk of recurrence but also for a more accurate correlation genotype-phenotype

Characterization of Children with Auditory Neuropathy Spectrum Disorder and their Rehabilitation

Objectivos: Identificar e caracterizar os casos pediátricos de Distúrbio do Espectro da Neuropatia Auditiva (DENA) e analisar a sua reabilitação. Desenho do Estudo: Estudo observacional descritivo. Material e Métodos: Análise dos processos clínicos de 671 doentes avaliados em primeira consulta de reabilitação auditiva pediátrica entre 2012 e 2019. Dos 467 casos de hipoacusia sensorioneural, incluíram-se aqueles que apresentavam PEATC sem resposta ou com resposta marcadamente anormal e OEAs presentes e/ou limiares tonais desproporcionais aos resultados electrofisiológicos. Obtiveram-se 12 casos de DENA. Resultados: A prevalência de DENA foi 2,6%. A maioria dos casos apresentou factores de risco para hipoacusia. Os resultados audiométricos foram heterogéneos e flutuantes. Quatro crianças foram reabilitadas com prótese auditiva e três com implante coclear. Conclusões: O DENA é uma condição rara, associada a vários factores de risco e de diagnóstico e abordagem desafiantes. A reabilitação auditiva tem de ser personalizada e guiada pelo desempenho funcional da criança.info:eu-repo/semantics/publishedVersio

The use of a geographic information system to increase outdoor tourism

info:eu-repo/semantics/publishedVersio

Antibioterapia de largo espectro como factor de risco para o isolamento de acinetobacter baumanni multiresistente

Antibioterapia de largo espectro é reconhecida como um factor de risco para a infecções multiresistentes. O objectivo é avaliar a associaçao entre antibioterapia de largo espectro com Meropenem (MP) e Piperacilina/Tazobactam (PT) com o isolamento de Acinetobacter baumanni multiresistente (ABMR). Estudo caso-controlo retrospectivo. Incluidos os individuos com ABMR+ no nosso hospital em 2010. Calculamos a incidenca nos Serviços Cirúrgicos, Serviços Médicos e Unidades de Cuidados Intensivos (UCI). Utilizamos para controlo uma amostra estratificada proporcional com 418 individuos calculada para um poder de 80%. Foi comparada a proporção de antibioterapia de largo espectro com MP e/ou PT nos ABMR+ e nos controlo. Foi comparada a distribuição da idade, sexo, score de Charlson, procedimetos invasivos e infecção previa entre os ABMR+ e os controlos. Foram incluidos 112 doentes: 14% cirurgicos, 61% médicos e 24% nas UCI. Idade média = 69 anos, 50% do sexo masculino. Incidencia global de ABMR+ foi de 0,28% (Cirurgia – 0,066%; Medicina – 0,63%; UCI-6,8%). A incidencia de ABMR foi superior entre os individuos sob MP ou PT: X2=273,5 p<0,001; OR=16,3 IC95%[10,53-25,33] para MP e X2=142,0 p<0,001; OR=9,10 IC95%[5,91-14,01] para PT. Os resultados são sobreponiveis para a analise de subpopulações. Nos doentes em UCI, o isolamento de ABMR foi indepedente do tratamento prévio com MP ou PT. A distribuição da idade, sexo, score de Charlson, procedimetos invasivos e infecção previa não foi estatisticamente diferente entre os casos e os controlos. Antiboterapia com MP e/ou PT foi um factor de risco independente no nosso hospital para a isolamento de ABMR nos Serviços de Cirurgia e Serviços de Medicina mas não em Unidades de Cuidados Intensivo

Productivity measurement: the case of nature tourism firms in Portugal

Productivity measurement in the tourism sector has been raising increasing interest among researchers and is recognised as an important indicator for understanding the strengths and weaknesses of the sector and for enhancing its spillover effects on the economy. However, studies for Portugal and the particular activities included in the set of nature tourism activities are scarce. To overcome this research gap, this paper calculates the labour productivity and total factor productivity (TFP) measures of nature tourism firms to compare firms’ productivity performance across NUTS II regions in mainland Portugal during 2014–2017. Using data from SABI, Quadros do Pessoal, INE and the National Tourism Registry, the sample consists of 369 firms, representing 55% of firms operating in nature tourism in the mainland. Results show that the levels of TFP, unlike to labour productivity, are uneven over time and space. In 2015, a year of change in the business cycle, all regions experienced a negative increase in TFP except the Metropolitan Region of Lisbon, which seems to indicate that nature tourism in most of the country is less resilient to external economic shocks, performing better in periods of prosperity. Labour productivity growth does not present, in general, consistently positive results.info:eu-repo/semantics/publishedVersio

Kafirin structure and functionality

The structural and functional properties of kafirins are reviewed. Three classes of kafirin: the a, ß and ? forms have been identified at the protein level and one, the d, has been identified only at the gene and transcript levels. All forms show high homology with the equivalent zein proteins. By analogy with the zeins it is believed that the a-kafirins probably have an extended hairpin structure in solution, comprising elements of a-helix, ß-sheet and turns folded back on itself. Kafirins are the most hydrophobic of the prolamins as shown by their solubility, and calculated hydration free energies. The proteins exhibit extensive cross-linking by disulphide bonds and on cooking form indigestible aggregates which are not solubilised by reduction of disulphide bonds. In spite of continuing studies, the reasons for the low digestibility of the protein remain uncertain and there may be several factors involved. Other research has shown that kafirins may have non-food uses and may be used to form films

The use of a geographic information system to increase outdoor tourism

Purpose: Outdoor tourism is a growing segment that still requires data for planning and management. Aimed to present the potential of the Geographic Information System (GIS) to improve outdoor tourism in the North of Portugal. To achieve this purpose, a case study was conducted on developing a Web-GIS in Northern Portugal. Methodology: Four steps were followed to develop the GIS tool with information about outdoor tourism in the North of Portugal. In the first step, municipalities in the North of Portugal sent information about outdoor activities. In the second step, the data were georeferenced and associated. In the last step, a Web-GIS was developed. Findings: The development of tools is an important source of support for tourism. This study identified that a tool such as the GIS could support a destination's decision-making and promotional processes, besides providing detailed information to the tourist and facilitating travel planning. Practical implications: GIS provides effective planning of outdoor tourism, once this tool allows an effective search of the tourist offer and, from the tourist's perspective, relevant suggestions of visits according to their location are presented, facilitating their experience in the region. Originality: Several studies relate to GIS and tourism, but there is still a gap in specific studies on outdoor activities. So, this study presents the importance of GIS to improve outdoor tourism in the North region of Portugal. Understanding this importance is essential in planning and managing tourism, helping further policymaking and marketing strategies.B913-0565-0908 | Elvira VieiraN/