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.

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.

Unusual Solutions for Catheter Placement in Haemodialysis Patients

Background: Although vascular access is essential for adequate haemodialysis delivery, the systematic use of a patient's venous patrimony may eventually lead to exhaustion of suitable sites for placement of a new vascular access. Case Report: We present two cases of such patients. In the first one we inserted a 55cm catheter through the left external iliac vein, and a 40cm translumbar catheter was placed in the second one. Both interventions were performed percutaneously under radiological guidance. Both patients were anticoagulated after the procedure. Conclusion: Unusual sites for haemodialysis catheter placement may be life saving in selected situations and offer safe and viable alternatives for adequate haemodialysis delivery.

The Hybrid Approach for Palliation of Hypoplastic Left Heart Syndrome: Intermediate Results of a Single-Center Experience

INTRODUCTION: Hypoplastic left heart syndrome (HLHS) is a major cause of cardiac death during the first week of life. The hybrid approach is a reliable, reproducible treatment option for patients with HLHS. Herein we report our results using this approach, focusing on its efficacy, safety and late outcome. METHODS: We reviewed prospectively collected data on patients treated for HLHS using a hybrid approach between July 2007 and September 2014. RESULTS: Nine patients had a stage 1 hybrid procedure, with seven undergoing a comprehensive stage 2 procedure. One patient completed the Fontan procedure. Five patients underwent balloon atrial septostomy after the hybrid procedure; in three patients, a stent was placed across the atrial septum. There were three deaths: two early after the hybrid procedure and one early after stage two palliation. Overall survival was 66%. CONCLUSIONS: In our single-center series, the hybrid approach for HLHS yields intermediate results comparable to those of the Norwood strategy. The existence of dedicated teams for the diagnosis and management of these patients, preferably in high-volume centers, is of major importance in this condition.