Publications by authors named "J Uusimaa"
Article Synopsis
- The study focuses on developing an AI-based model to automate the interpretation of scalp EEGs for better epilepsy management, addressing the lack of specialized expertise in many regions.
- It suggests using machine learning techniques to boost the efficiency of the digital care pathway for epilepsy, involving a focus group to evaluate the system's usability and feasibility.
- Results showed high accuracy rates for various machine learning models in diagnosing seizures, while also highlighting that the sustainability of this AI system relies on technological resources, training, and regulatory factors.
Article Synopsis
- - The study focuses on X-linked recessive type 3 Charcot-Marie-Tooth (CMTX3), a rare condition with a common genetic insertion found in affected patients.
- - Optical genome mapping (OGM) in a male patient with symptoms similar to Dejerine-Sottas disease revealed a new genetic insertion linked to atypical CMTX3, which was inherited from his mother.
- - The research suggests that further analysis of genomic rearrangements in a specific chromosome region should be included in diagnostic tests for childhood-onset CMT, as these genetic changes may disrupt important genes and contribute to related neurological symptoms.
Salla disease (SD) is a lysosomal storage disease where free sialic acid (SA) accumulates in lysosomes due to the impaired function of a membrane protein, sialin. Synchrotron radiation-based scanning transmission soft X-ray spectromicroscopy (STXM) was used to analyze both SD patients' fibroblasts and normal human dermal fibroblasts (NHDF) from healthy controls. Both cell lines were also cultured with -acetyl-d-mannosamine monohydrate (ManNAc) to see if it increased SA concentration in the cells.
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- The study aimed to identify brain MRI patterns associated with pediatric genetic disorders linked to white matter abnormalities in Northern Finland, focusing on patients diagnosed before age 18.
- Researchers reviewed MRI scans from Oulu University Hospital collected over 29 years, ultimately analyzing 83 patients with 52 different genetic conditions that showed significant white matter issues.
- A majority (87%) of the children had abnormal MRI results, highlighting specific abnormalities like cerebral white matter changes and thinning of the corpus callosum, indicating that these patterns can help diagnose rare genetic disorders effectively.
We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threatening condition. In a multinational, retrospective study with data on patients with POLG disease from seven European countries, we identified those who had SE. The age of SE onset, accompanying clinical, laboratory, imaging and genetic findings were analysed.
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