Dysphagia is a frequent symptom of spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD), being associated with alterations in nutritional intake and hydration, as well as an increased risk of aspiration pneumonia. This study aims to evaluate the impact of self-perceived dysphagia and its relationship with quality of life in SCA3/MJD mutation carriers. 41 SCA3/MJD mutation carriers from the Azorean ...
Background and objective: In dogs, several skin disorders have been associated with allergen-specific IgE and clinical manifestations like atopic dermatitis are one main reason for veterinary care regarding allergy. However, sensitization may occur without clinical manifestations, pointing to the occurrence of specific IgE lacking allergy triggering. Defective skin barrier function, favoring an in-depth penetra...
Background and objective: Allergic diseases in horses have remained unknown since IgE in horses has not been precisely measured. CRE-DR is a unique anti-IgE antibody cross-reactive to human and dog IgE. Amino acids of CRE-DR epitope are well-conserved among animal species except for rodents. In addition, CRE-DR recognizes IgE losing FcRI binding. Therefore, this work aimed to identify pathogenic (heat-sensitiv...
Background and objective: In Europe approximately 23% of the population is affected by allergic respiratory diseases. The most common clinical signs are sneezing, itchy nose, rhinorrhea, and/or nasal congestion. In humans, several respiratory disorders have also been associated with allergen-specific IgE. Various clinical manifestations such as asthma or allergic rhinitis are among the main reasons for allergy ...
Objectivos: Pretendeu-se implementar o método ELISA para determinar níveis de IgE patogénica e não patogénica em soros humanos, caninos e equinos, de pacientes sensibilizados e alérgicos a ácaros das espécies Dermatophagoides farinae e Dermatophagoides pteronyssinus, usando o sistema de deteção CRE-DR e CRE-DRB (Animal Allergy Clinical Laboratory, Japan). Metodologia: Foram incluídos cães e cavalos, seguidos no...
Background Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS. Objective To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle fac...
We report a case of an Azorean family with the diagnosis of the King-Denborough syndrome. Both mother and the two siblings present all the characteristic clinical findings of this syndrome – facial dysmorphias (with palpebral ptosis, malar hypoplasia, arched palate and micrognathia), musculoskeletal abnormalities (bell-shaped chest, pectus excavatum and lumbar hyperlordosis), diminished lower limbs strength wit...
El turismo puede potenciar regiones con recursos endógenos relevantes, donde la gastronomía puede imponerse como producto estratégico por su contribución a la experiencia turística. La presente investigación se centró en el estudio de la importancia de la gastronomía para el desarrollo del turismo en la Región de la Serra da Estrela, para lo cual se utilizó un análisis cualitativo basado en un estudio de caso -...
O Branqueamento de Capitais é o «processo pelo qual os autores de atividades económicas encobrem a origem dos bens e rendimentos (vantagens) obtidos ilicitamente, transformando a liquidez proveniente dessas atividades em capitais reutilizáveis legalmente, por dissimulação da origem ou do verdadeiro proprietário dos fundos». Com o Branqueamento de Capitais enquanto objeto de estudo, foi abordada a relevância das...
Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of patients with pantothenate kinase-associated neurodegeneration.