Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.

AADC deficiency is a severe neurometabolic inherited rare disorder due to the absence or decrease of dopamine and serotonin levels, causing deep motor and neurodevelopmental impairments. The disease is often fatal in the first decade of life, and pharmacological treatments (dopamine agonists, pyridoxine, and monoamine oxidase inhibitors as the first-line choices) can only alleviate the symptoms. Gene therapy surgery is now available for severe patients in the European Union and the United Kingdom, and follow-up data witness encouraging improvements.

Ambient Hot Box: An Instrument for Thermal Characterization of Building Elements and Constructive Materials.

In assessing the energy performance of buildings, the thermal performance of the structural components and building materials is crucial. Although reference catalogs are used to determine the thermal properties of construction materials, the use of novel materials or non-homogeneous mixtures, particularly with biomaterials, demands the development of new instruments that are capable of performing rapid, accurate and cost-effective thermal characterization. This study introduces the ambient hot-box, a new tool for measuring the thermal properties of construction components and heterogeneous materials.

Effect of Iron (III) Oxide Powder on Thermal Conductivity and Diffusivity of Lime Mortar.

One of the challenges in construction is the improvement of energy efficiency of buildings. Development of construction materials of low thermal conductivity is a straightforward way to improve heat isolating capability of an enclosure. Lime mortar has a number of advantageous and peculiar properties and was widely used until the "irruption" of Portland cement.

Effect of a Resuscitation Strategy Targeting Peripheral Perfusion Status vs Serum Lactate Levels on 28-Day Mortality Among Patients With Septic Shock: The ANDROMEDA-SHOCK Randomized Clinical Trial.

Importance: Abnormal peripheral perfusion after septic shock resuscitation has been associated with organ dysfunction and mortality. The potential role of the clinical assessment of peripheral perfusion as a target during resuscitation in early septic shock has not been established.

Objective: To determine if a peripheral perfusion-targeted resuscitation during early septic shock in adults is more effective than a lactate level-targeted resuscitation for reducing mortality.

A ZigBee-based wireless system for monitoring vital signs in hyperbaric chambers: Technical report.

This paper presents the replacement of a traditional wired communication link of the hyperbaric chambers with a wireless ZigBee-based system. This move allows a reduction in the costs of seals capable of withstanding the internal pressures and gives rise to a more versatile system. The new system is able to capture and process individual vital signs like the electrocardiography signal, and other analog sources, sending the data to an external computer and allowing analysis, representation and sharing with medical staff.

Species identification in forensic samples using the SPInDel approach: A GHEP-ISFG inter-laboratory collaborative exercise.

DNA is a powerful tool available for forensic investigations requiring identification of species. However, it is necessary to develop and validate methods able to produce results in degraded and or low quality DNA samples with the high standards obligatory in forensic research. Here, we describe a voluntary collaborative exercise to test the recently developed Species Identification by Insertions/Deletions (SPInDel) method.

Wireless transmission of biosignals for hyperbaric chamber applications.

This paper presents a wireless system to send biosignals outside a hyperbaric chamber avoiding wires going through the chamber walls. Hyperbaric chambers are becoming more and more common due to new indications of hyperbaric oxygen treatments. Metallic walls physically isolate patients inside the chamber, where getting a patient's vital signs turns into a painstaking task.