Development of tools to facilitate the diagnosis of hereditary fructose intolerance.

Although hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism that classically presents at infancy, the diagnosis is often missed or delayed. In this study, we aimed to develop tools to facilitate the diagnosis of HFI. The intake of fructose-containing food products, that is, fruit, fruit juice and sugar-sweetened beverages, was assessed by a 3-day food diary in adult HFI patients ( = 15) and age, sex, and BMI-matched controls ( = 15).

Plasma ceramides relate to mild cognitive impairment in middle-aged men: The Maastricht Study.

Introduction: There is an urgent need for biomarkers identifying individuals at risk of early-stage cognitive impairment. Using cross-sectional data from The Maastricht Study, this study included 197 individuals with mild cognitive impairment (MCI) and 200 cognitively unimpaired individuals aged 40 to 75, matched by age, sex, and educational level.

Methods: We assessed the association of plasma sphingolipid and ceramide transfer protein (CERT) levels with MCI and adjusted for potentially confounding risk factors.

A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measures.

There is a paucity in literature on eating and psychosocial problems in patients with hepatic glycogen storage disease (GSD) and idiopathic ketotic hypoglycemia (IKH), problems that can greatly affect quality of life. This is a monocentre, retrospective, observational mixed method study of patients with hepatic GSD or IKH treated at the Beatrix Children's Hospital Groningen, who had been referred to SeysCentra, a specialist centre for the treatment of eating problems. Additionally, a systematic literature review has been performed to identify instruments to quantify patient-reported outcome measures of psychosocial problems in hepatic GSD patients.

Decentralization and health resources transfer to local governments in Burkina Faso: A SWOT analysis among health care decision makers.

Background And Aims: In line with the decentralization policy, in 2009, the central government of Burkina Faso issued a decree to transfer health resources to local governments for fulfilling their new responsibilities in health care provision. The first stage of this health care decentralization process involved the basic health care facilities, composed of primary health care facilities, maternities, dispensaries, maternal and child health centers, and essential drugs depots.This study seeks to explore the strengths, weaknesses, opportunities, and threats (SWOT) associated with the health resources transfer in Burkina Faso, from the perspective of decision makers.

Creation of a universal language for surgical procedures using the step-by-step framework.

Background: Learning of surgical procedures is traditionally based on a master-apprentice model. Segmenting procedures into steps is commonly used to achieve an efficient manner of learning. Existing methods of segmenting procedures into steps, however, are procedure-specific and not standardized, hampering their application across different specialties and thus worldwide uptake.

[The Road towards the Responsible and Safe Legalization of Cannabis Use in Portugal].

Introduction: Recently, the world has seen examples of the legalization of cannabis for recreational purposes. Due to the diversity of experiences in progress, it is urgent to analyze the impacts of this legalization, from a public health perspective. Therefore, this article aims to review the accumulated knowledge in the states and countries where the use of cannabis is legal and to ponder over the relevance of starting a similar path towards legalization in Portugal, thus supporting political decisions to be properly informed and evidence-based.

[Biologicals and Biosimilars: Gaps in the Pharmacovigilance System in Portugal].

Introduction: Biological and biosimilar medicinal products have specific characteristics that call for a closer monitoring of their safety profile. Since the current legal framework stems from both European and national regulations, some gaps in the operational field may be expected. The goal of this paper is to identify these gaps and propose changes to the current information systems and pharmacovigilance regulations.

Foresight beats hindsight: The neural correlates underlying motor preparation in the pro-/anti-cue paradigm.

Background: Human motor behaviors are characterized by both, reactive and proactive mechanisms. Yet, studies investigating the neural correlates of motor behavior almost exclusively focused on reactive motor processes. Here, we employed the motor preparation paradigm to systematically study proactive motor control in an imaging environment.