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CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt-Jakob disease susp...

Cerebrospinal fluid (CSF) 14-3-3 protein supports sporadic Creutzfeldt-Jakob (sCJD) diagnosis, but often leads to weak-positive results and lacks standardization. In this study, we explored the added diagnostic value of Total Tau (t-Tau) and phosphorylated Tau (p-Tau) in sCJD diagnosis, particularly in the cases with inconclusive 14-3-3 result. 95 definite sCJD and 287 patients without prion disease (non-CJD) w...

CO75 - Epidemiology of procedural pain in neonatal intensive care units of Port...

A neonatologia é uma subespecialidade da pediatria relativamente nova iniciando-se como uma área altamente tecnológica e que tende a ser cada vez menos invasiva. Foram vários os avanços que permitiram uma redução da mortalidade do recém-nascido prematuro: o transporte in utero, os corticóides prenatais, o "milagre" do surfactante, cuidados regionalizados (de que Portugal é um bom exemplo), ... Com a evolução do...

Preterm birth versus neonatal pain challenges for organizations and health teams

A incidência do parto pré-termo tem aumentado em todo o mundo, desafios de sobrevivência dos recémnascidos prematuros de muito baixo peso têm colocado a inovação e a evolução tecnológica acima de outros fatores críticos a eles inerentes: a hipersensibilidade sensorial e a imaturidade neurológica para a manifestar. Estudos realizados em diferentes países e Unidades de Cuidados Intensivos Neonatais têm revelado o...

PAIN MANAGEMENT IN NEONATAL INTENSIVE CARE UNITS: TRANSLATING RESEARCH AND EVID...

Introduction: There is a consensus that a revolution in knowledge of neonate pain management has occurred, an increasing volume of scientific evidence to support the assessment and clinical guidelines. There are also different studies that indicate a gap between what is known and what occurs in practice. The goal of this study was known the models that contribute for applicability of the Evidence-Based Practice...

Bioenergetic dysfunction in Huntington's disease human cybrids

In this work we studied the mitochondrial-associated metabolic pathways in Huntington's disease (HD) versus control (CTR) cybrids, a cell model in which the contribution of mitochondrial defects from patients is isolated. HD cybrids exhibited an interesting increase in ATP levels, when compared to CTR cybrids. Concomitantly, we observed increased glycolytic rate in HD cybrids, as revealed by increased lactate/p...

Mitochondrial-dependent apoptosis in Huntington's disease human cybrids

We investigated the involvement of mitochondrial-dependent apoptosis in Huntington's disease (HD) vs. control (CTR) cybrids, obtained from the fusion of human platelets with mitochondrial DNA-depleted NT2 cells, and further exposed to 3-nitropropionic acid (3-NP) or staurosporine (STS). Untreated HD cybrids did not exhibit significant modifications in the activity of mitochondrial respiratory chain complexes I-...

Estudo do perfil do envelhecimento da população portuguesa

Genetic screening of Alzheimer's disease genes in Iberian and African samples y...

Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65 years) Alzheimer's disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early-onset AD (mean age at onset of 52.9 years; range 31-64). We found t...

Diagnostic value of CSF protein profile in a Portuguese population of sCJD pati...

The clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is difficult, and reliable markers are highly desired. In this work we assess the value of several cerebrospinal fluid (CSF) markers for sCJD diagnosis. Within the framework of the Portuguese Epidemiological Surveillance Program for Human Prion Diseases, CSF samples from 71 patients with clinically suspected sCJD, 30 definite sCJD and 41 non-CJ...

Complete screening for glucocerebrosidase mutations in Parkinson disease patien...

Mutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. Here we report the results found in a cohort of Portuguese Parkinson disease patients and healthy age-matched controls for mutations in the aforementioned gene. This screening was accomplished by sequencing the complete open-reading frame, as well as intr...