Analysis of Synaptic Proteins in the Cerebrospinal Fluid as a New Tool in the Study of Inborn Errors of Neurotransmission

Abstract In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the possibility of detecting key synaptic proteins in the CSF, in particular dopaminergic and gabaergic, as new procedures that could be useful for both pathophysiological and diagnostic purposes in investigation of inherited disorders of neurotransmission. Dopamine receptor type 2 (D2R), dopamine transporter (DAT) and vesicular monoamine transporter type 2 (VMAT2) were analysed in CSF samplesfrom 30 healthy controls (11 days to 17 years) by western blot analysis. Because VMAT2 was the only protein with intracellular localisation, and in order to compare results, GABA vesicular transporter, which is another intracellular protein, was also studied. Spearman’s correlation and Student’s t tests were applied to compare optical density signals between different proteins. All these synaptic proteins could be easily detected and quantified in the CSF. DAT, D2R and GABA VT expression decrease with age, particularly in the first months of life, reflecting the expected intense synaptic activity and neuronal circuitry formation. A statistically significant relationship was found between D2R and DAT expression, reinforcing the previous evidence of DAT regulation by D2R. To our knowledge, there are no previous studies on human CSF reporting a reliable analysis of these proteins. These kinds of studies could help elucidate new causes of disturbed dopaminergic and gabaergic transmission as well as understanding different responses to L-dopa in inherited disorders affecting dopamine metabolism. Moreover, this approach to synaptic activity in vivo can be extended to different groups of proteins and diseases.

Automatic Small Bowel Tumor Diagnosis by Using Multi-Scale Wavelet-Based Analysis in Wireless Capsule Endoscopy Images

BACKGROUND: Wireless capsule endoscopy has been introduced as an innovative, non-invasive diagnostic technique for evaluation of the gastrointestinal tract, reaching places where conventional endoscopy is unable to. However, the output of this technique is an 8 hours video, whose analysis by the expert physician is very time consuming. Thus, a computer assisted diagnosis tool to help the physicians to evaluate CE exams faster and more accurately is an important technical challenge and an excellent economical opportunity. METHOD: The set of features proposed in this paper to code textural information is based on statistical modeling of second order textural measures extracted from co-occurrence matrices. To cope with both joint and marginal non-Gaussianity of second order textural measures, higher order moments are used. These statistical moments are taken from the two-dimensional color-scale feature space, where two different scales are considered. Second and higher order moments of textural measures are computed from the co-occurrence matrices computed from images synthesized by the inverse wavelet transform of the wavelet transform containing only the selected scales for the three color channels. The dimensionality of the data is reduced by using Principal Component Analysis. RESULTS: The proposed textural features are then used as the input of a classifier based on artificial neural networks. Classification performances of 93.1% specificity and 93.9% sensitivity are achieved on real data. These promising results open the path towards a deeper study regarding the applicability of this algorithm in computer aided diagnosis systems to assist physicians in their clinical practice.

Tradução, Adaptação e Validação da Escala Jones Dependency Tool

A avaliação do grau de dependência dos utentes é um dos aspectos que contribui para a melhoria dos cuidados, dado que permite uma melhor adequação dos recursos humanos às situações vivenciadas no quotidiano dos serviços de urgência. A carga de trabalho em enfermagem está estreitamente relacionada com o grau de dependência, pelo que a sua avaliação assume-se como um elemento fundamental numa politica de gestão de qualidade. Com o intuito de avaliar, numa fase inicial, o grau de dependência dos utentes que recorrem aos serviços de urgência foi criada uma escala – Jones Dependency Tool (JDT) – sendo que o objectivo major é a avaliação da carga de trabalho em Enfermagem relacionando com o grau de dependência dos utentes. O presente estudo visa traduzir, adaptar e validar para Portugal o referido instrumento. O estudo encontra-se dividido em duas partes. A primeira constituída pela tradução e adaptação cultural da JDT para língua portuguesa e a segunda, pela análise da fidelidade e da validade do instrumento. O processo de validação para a língua portuguesa ocorreu numa amostra de 129 utentes de dois serviços de urgência da região de lisboa. Através dos testes estatísticos realizados, a versão Portuguesa revelou-se um instrumento confiável e válido para a realização do grau de dependência dos utentes que recorrem ao serviço de urgência.