Most of the inborn errors of metabolism (IEM) are autosomal recessively inherited and they are more frequent in the countries where consanguineous marriages are commonly practiced. Rarely, more than one IEM are seen in the siblings of one family or in the same sibling. Here we report a patient with both argininosuccinic aciduria (ASA) and methylmalonic acidemia (MMA) and our therapeutic approac...

Therapeutic drug monitoring is an esential tool for a positive management therapy. The prefered laboratory strategy is immunoassay. Due to the cross-reactivity to other components, alternative approaches, such as LC-MS, are continously under investigation. The paper described briefly the main aspects regarding LC-MS apparatus and technique and recent applications on therapeutic drug monitoring,...

We employed a pyramidal training model (PTM) to teach staff to correctly implement and collect data for trial-based functional analysis (TBFA) in simulated situations. First, we trained four behavioral consultants (BCs) in a group format, who each trained one behavior technician (BT) in an individual format. We utilized a non-concurrent multiple baseline design to evaluate the effect of the tra...

Introduction: Specific ventilation (SV) is defined as a dimensionless quantity of inhaled gas ventilation that occurs during tidal breathing and is calculated as tidal volume divided by functional residual capacity [1]. 1H MRI was previously proposed to regionally quantify SV, using inhaled O2 as a contrast agent [2]. Our objective was to develop a novel and rapid way to measure whole lung and ...

Research suggests that inexperienced individuals cannot accurately implement stimulus preference assessments given written instructions alone. Training that includes written instructions supplemented with feedback from a professional with expertise in conducting preference assessments has proven effective; unfortunately, expert-facilitated direct training may not be widely available. In the cur...