Publications by authors named "J Bladowska"
Article Synopsis
- This study investigates the effectiveness of Diffusion-Weighted Imaging (DWI) in improving the identification of sellar and parasellar tumors during routine pituitary MRI scans, recognizing a gap in current guidelines.
- A retrospective analysis of 242 MRI scans revealed that invasive pituitary adenomas had significantly lower apparent diffusion coefficient (ADC) values compared to other tumor types, with specific cut-off points indicating high sensitivity and specificity for differentiation.
- The findings suggest that incorporating DWI into standard MRI protocols can significantly enhance diagnostic accuracy for these tumors, with a quick scan time making it a practical addition to pituitary examinations.
Article Synopsis
- Monoallelic HMBS variants cause acute intermittent porphyria (AIP), while biallelic variants may lead to a less understood condition called HMBS-related leukoencephalopathy.
- An 8-year-old girl exhibited symptoms such as hypotonia, vision issues, and abnormal brain activity, prompting genetic testing that initially pointed to a different variant before identifying a homozygous HMBS variant.
- This case highlights that HMBS-related leukoencephalopathy can occur without classic porphyria symptoms, expanding the understanding of this genetic disease's presentation.
Introduction: Thoracolumbar vertebral fractures (TVFs) constitute frequent injuries with specific therapeutic challenges and remarkable implications for affected individuals. The aim of this study is to investigate the alteration of overall health-related quality of life (HRQoL) in patients with traumatic TVFs undergoing thoracolumbar fusion surgery.
Materials And Methods: A total of 72 patients with single-level traumatic thoracic or lumbar vertebral fractures (AO type A3 or A4) were enrolled in this prospective cohort study.
Intellectual disability with speech delay and behavioural abnormalities, as well as hypotonia, seizures, feeding difficulties and craniofacial dysmorphism, are the main symptoms associated with pathogenic variants of the gene. The range of clinical manifestations of the ZMYND phenotype is constantly being expanded by new cases described in the literature. Here, we present two previously unreported paediatric patients with neurodevelopmental challenges, who were diagnosed with missense variants in the gene.
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