Publications by authors named "Pospieszny K"

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.
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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.

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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. 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.
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Background And Purpose: Assessment of cerebral venous sinus thrombosis on MR imaging can be challenging. The aim of this study was to evaluate the diagnostic accuracy of high-resolution 3D T2 sampling perfection with application-optimized contrasts by using different flip angle evolution (SPACE) in patients with cerebral venous sinus thrombosis and to compare its performance with contrast-enhanced 3D T1-MPRAGE.

Materials And Methods: We performed a blinded retrospective analysis of T2-SPACE and contrast-enhanced MPRAGE sequences from patients with cerebral venous sinus thrombosis and a control group.

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Sudden onset of disturbed consciousness, neurocognitive deficits, and weakness of the proximal limbs are typical findings of a watershed stroke. Occurrence after an intense emotional experience and electrocardiogram changes are hints toward the rare cause of stroke of a takotsubo cardiomyopathy, even more if the stroke pattern is embolic.

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Background: Spinal imaging is essential to identify and localize cerebrospinal fluid (CSF) leaks in spontaneous intracranial hypotension (SIH) patients when targeted treatment is necessary.

Purpose: Provide an in-depth presentation of the conventional dynamic myelography (CDM) technique for localizing spinal CSF leaks in SIH patients.

Material And Methods: Consecutive SIH patients with a CSF leak confirmed on CDM and postmyelography computed tomography (CT) investigated at our institution between 2013 and 2019 were retrospectively analyzed.

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Purpose: Sacrococcygeal teratomas (SCT) can be detected in ultrasonography as early as in the first trimester. Currently, prenatal ultrasonography enables a thorough examination of tumors, but it is not always sufficient. The purpose of this study was to determine the most important features of SCTs in fetal magnetic resonance imaging and to confront them with postnatal computed tomography (CT).

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