Raphaela Muri

Inselspital, Universitätsspital Bern · University Department for Diabetes, Endocrinology, Nutritional Medicine and Metabolism (UDEM)

This study aimed to analyze whether early‐treated adults with phenylketonuria (PKU) can subjectively sense high phenylalanine (Phe) concentrations and whether a possible impact of Phe on objective measures of cognitive performance and mood reflects patients' self‐perception. Data from the PICO study, a randomized, placebo‐controlled, double‐blind,...

Background Phenylketonuria (PKU) is a rare inborn error of metabolism characterized by impaired catabolism of the amino acid phenylalanine (Phe) into tyrosine. Cross-sectional studies suggest slight alterations in cognitive performance and neural activation in adults with early-treated PKU. The influence of high Phe levels on brain function in adul...

Phenylketonuria is a rare metabolic disease resulting from a deficiency of the enzyme phenylalanine hydroxylase. Recent cross-sectional evidence suggests that early-treated adults with phenylketonuria exhibit alterations in cortical grey matter compared to healthy peers. However, the effects of high phenylalanine exposure on brain structure in adul...

Background Phenylketonuria (PKU) represents a congenital metabolic defect that disrupts the process of converting phenylalanine (Phe) into tyrosine. Earlier investigations have revealed diminished cognitive performance and changes in brain structure and function (including the presence of white matter lesions) among individuals affected by PKU. How...

Background Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality of life (HRQoL) in adults with early-treated classical PKU are discrepant. Moreover, little is known about metabolic, demographic, and cognitive factors associated with HRQoL. Henc...

Despite increasing knowledge about the effects of phenylketonuria on brain structure and function, it is uncertain whether white matter microstructure is affected and if it is linked to patients’ metabolic control or cognitive performance. Thus, we quantitatively assessed white matter characteristics in adults with phenylketonuria and assessed thei...

Introduction: Home parenteral nutrition (HPN) is a rare but challenging therapy and care for patients with mostly severe underlying diseases. We aimed to investigate patient-reported health-related quality of life (QOL) of patients receiving HPN and its development over time in particular. Methods: We assessed QOL of HPN patients in a prospectiv...

Background & aims: Advances in technology enable patients on home parenteral nutrition (HPN) to manage their treatment more independently and safely. eHealth is a promising application of electronic means in healthcare, aimed at improving and simplifying processes and connecting the different parties involved. A thorough understanding of the attitu...

Despite good control of phenylalanine (Phe) levels during childhood and adolescence, adults with phenylketonuria (PKU) often show abnormalities in the white matter of the brain, which have been associated with subtle cognitive impairments. However, whether such a relationship exists with cortical gray matter (GM) is still unknown. Therefore, we inv...

Background: Ultrasound-guided fine-needle aspiration (FNA) is the preferred method to evaluate the dignity of thyroid nodules. Nevertheless, the often-reported high non-diagnostic rate burdens affected patients and the healthcare system. Rapid on-site evaluation (ROSE) constitutes an addition to the thyroid FNA procedure, with various studies show...

Background Phenylketonuria (PKU) is an inborn error of metabolism affecting the conversion of phenylalanine (Phe) to tyrosine. Previous research has found cognitive and functional brain alterations in individuals with PKU even if treated early. However, little is known about working memory processing and its association with task performance and me...

Background The suitability of driving simulators for the prediction of driving behaviour in road traffic has been able to be confirmed in respect of individual assessment parameters. However, there is a need for overarching approaches that take into account the interaction between various influencing factors in order to establish proof of validity....

Abstract Purpose: Migraine with aura (MwA) in the emergency setting is common and sometimes difficult to distinguish from mimicking conditions. Susceptibility weighted imaging (SWI), a magnet resonance (MR) technique is sensitive to deoxygenated hemoglobin in cerebral veins and depicts these according to their level of oxygenation. Our study aimed...

Segmentation of white matter lesions and deep grey matter structures is an important task in the quantification of magnetic resonance imaging in multiple sclerosis. In this paper we explore segmentation solutions based on convolutional neural networks (CNNs) for providing fast, reliable segmentations of lesions and grey-matter structures in multi-m...

Background /aim Migraine with aura (MwA) in the emergency setting is common and sometimes difficult to distinguish from mimicking conditions. Susceptibility weighted imaging (SWI), a magnet resonance (MR) technique is sensitive to deoxygenated hemoglobin in cerebral veins and depicts these according to their level of oxygenation (1). Our study aime...

Purpose: Migraine with aura (MwA) in the emergency setting is common and sometimes difficult to distinguish from mimicking conditions. Susceptibility weighted imaging (SWI), a magnet resonance (MR) technique is sensitive to deoxygenated hemoglobin in cerebral veins and depicts these according to their level of oxygenation. Our study aimed at evalua...

An amendment to this paper has been published and can be accessed via the original article.

Background Migraine with aura (MwA) in pediatric patients is clinically frequent. Clinically complex symptoms need to be differentiated to exclude mimicking conditions. Purpose We hypothesize that MwA in children induces abnormalities readily visible in perfusion time to peak (TTP) maps as well as non-enhanced susceptibility weighted magnetic reso...

Background: The population of adult patients with early-treated phenylketonuria (PKU) following newborn screening is growing substantially. The ideal target range of blood phenylalanine (Phe) levels in adults outside pregnancy is a matter of debate. Therefore, prospective intervention studies are needed to evaluate the effects of an elevated Phe c...

Background The population of adult patients with early-treated phenylketonuria (PKU) following newborn screening is growing substantially. The ideal target range of blood Phenylalanine (Phe) levels in adults outside pregnancy is a matter of debate. Therefore, prospective intervention studies are needed to evaluate the effects of an elevated Phe con...

The detection of new or enlarged white-matter lesions is a vital task in the monitoring of patients undergoing disease-modifying treatment for multiple sclerosis. However, the definition of 'new or enlarged' is not fixed, and it is known that lesion-counting is highly subjective, with high degree of inter- and intra-rater variability. Automated met...

Background The population of adult patients with early-treated phenylketonuria (PKU) following newborn screening is growing substantially. The ideal target range of blood Phe levels in adults outside pregnancy is discussed controversially. Therefore, prospective intervention studies are needed to evaluate the effects of an elevated Phe concentratio...

The detection of new or enlarged white-matter lesions in multiple sclerosis is a vital task in the monitoring of patients undergoing disease-modifying treatment for multiple sclerosis. However, the definition of 'new or enlarged' is not fixed, and it is known that lesion-counting is highly subjective, with high degree of inter- and intra-rater vari...

Segmentation of both white matter lesions and deep grey matter structures is an important task in the quantification of magnetic resonance imaging in multiple sclerosis. Typically these tasks are performed separately: in this paper we present a single CNN-based segmentation solution for providing fast, reliable segmentations of multimodal MR imagie...

To gain more insight into central hearing loss, we investigated the relationship between cortical thickness and surface area, speech-relevant resting state EEG power, and above-threshold auditory measures in older adults and younger controls. Twenty-three older adults and 13 younger controls were tested with an adaptive auditory test battery to mea...