IDS (Germany)

Despite numerous studies in human patients and animal models for phenylketonuria (PKU; OMIM#261600), the pathophysiology of PKU and the underlying causes of brain dysfunction and cognitive problems in PKU patients are not well understood. In this study, lumbar cerebral spinal fluid (CSF) was obtained immediately after blood sampling from early-treated adult PKU patients who had fasted overnight. Metabolite and amino acid concentrations in the CSF of PKU patients were compared with those of non-PKU controls. The CSF concentrations and CSF/plasma ratios for glucose and lactate were found to be below normal, similar to what has been reported for glucose transporter1 (GLUT1) deficiency patients who exhibit many of the same clinical symptoms as untreated PKU patients. CSF glucose and lactate levels were negatively correlated with CSF phenylalanine (Phe), while CSF glutamine and glutamate levels were positively correlated with CSF Phe levels. Plasma glucose levels were negatively correlated with plasma Phe concentrations in PKU subjects, which partly explains the reduced CSF glucose concentrations. Although brain glucose concentrations are unlikely to be low enough to impair brain glucose utilization, it is possible that the metabolism of Phe in the brain to produce phenyllactate, which can be transported across the blood-brain barrier to the blood, may consume glucose and/or lactate to generate the carbon backbone for glutamate. This glutamate is then converted to glutamine and carries the Phe-derived ammonia from the brain to the blood. While this mechanism remains to be tested, it may explain the correlations of CSF glutamine, glucose, and lactate concentrations with CSF Phe.

Dieses Praxisbuch hilft die Sprach- und Erzählentwicklung von kleinen Kindern in der Logopädie und Sprachtherapie gezielt zu fördern.

We present a prototype of a 3D infant head reconstruction app on a mobile phone for a cranial asymmetry measurement method.In this work, we focus on the user experience and user feedback of the interactive reconstruction pipeline.The advent of 3D sensor-equipped mobile phones such as the iPhone TrueDepth camera enables widespread 3D reconstruction and measurement applications such as room measurements for interior design preview and object reconstruction.Reconstructing an infant's head with an RGBD sequence is challenging due to the uncooperative behaviour of the subject.The RGBD data for the scan is recorded with the TrueDepth camera system on the front of iPhones (starting with the iPhone X), which is normally used for FaceID.The forward-facing position of the sensor poses a challenge to the app operator because the screen is hardly visible during recording.The major contribution of this work is an app providing audible, haptic and visual feedback to support the user during the scanning process.Furthermore, the app is designed to be easy to use following an intuitive user experience design.Lastly, the developed app is tested by a team of physical therapists to evaluate the feedback concept and the user experience.