Publications by authors named "K Pospieszny"
Background: Radical resection of spinal cord lipomas reduces the rate of re-tethering. Current conventional neurophysiological mapping techniques are not able to differentiate between crucial motor nerve roots and sensory roots. Enhanced differentiation could contribute to complete resection.
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- LAMA2-related muscular dystrophy (LAMA2-RD) is a genetic disorder that affects muscle function and is commonly seen in congenital cases; there is a focus on developing new therapies and understanding its epidemiology.
- The study analyzed a baseline cohort of 18 patients in Switzerland using data from the Swiss Registry for Neuromuscular Disorders, examining various diagnostic and clinical factors related to their health.
- Findings revealed that most patients (14) had the severe form of the disease with early onset symptoms, highlighting significant brain abnormalities in many cases, underscoring the complexity and variability of LAMA2-RD.
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 adulthood need to be further elucidated.
View Article and Find Full Text PDFBackground: 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. However, there exists limited understanding regarding cerebral blood flow (CBF) and its potential associations with cognition, white matter lesions, and metabolic parameters in patients with PKU, which we therefore aimed to investigate in this study.
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- The study investigates the impact of phenylketonuria (PKU) on white matter microstructure in adults, focusing on how it correlates with metabolic control and cognitive performance.
- Using diffusion tensor imaging and H spectroscopy, researchers analyzed 30 PKU patients and 54 healthy controls, revealing significant reductions in white matter metrics like mean diffusivity and fractional anisotropy in patients.
- The findings indicate that these microstructural changes are linked to cognitive functions such as inhibition and cognitive flexibility, suggesting that PKU may have broader effects on brain structure and function than previously understood.