Publications by authors named "Edyta Rosiak"
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired polyneuropathy that especially among youngest children should be differentiated with hereditary neuropathies. Even though upon diagnosis treatment options are similar in children and adults, diagnostic challenges are faced in the pediatric population. We conducted a retrospective analysis of clinical symptoms, nerve conduction study results, modes of treatment, and final outcome in 37 children aged 3.
View Article and Find Full Text PDFLMNA-related congenital muscular dystrophy (L-CMD) is the most severe phenotypic form of skeletal muscle laminopathies. This paper reports clinical presentation of the disease in 15 Polish patients from 13 families with genetically confirmed skeletal muscle laminopathy. In all these patients floppy infant syndrome was the first manifestation of the disease.
View Article and Find Full Text PDFArticle Synopsis
- Myofibrillar myopathies (MFM) are complex hereditary muscle diseases characterized by specific muscle damage and variable onset/progression, with many cases lacking a clear genetic diagnosis.
- Researchers conducted whole exome sequencing on 13 patients from 11 families suspected to have MFM to identify genetic variants associated with the condition, utilizing a multi-step filtering strategy.
- Genetic diagnosis was successful in 8 out of 11 cases, revealing mutations in several genes, demonstrating the diverse genetic landscape of MFM and highlighting the importance of advanced sequencing technologies in understanding these diseases.
LGMD2L is a subtype of limb-girdle muscular dystrophy (LGMD), caused by recessive mutations in ANO5, encoding anoctamin-5 (ANO5). We present the analysis of five patients with skeletal muscle weakness for whom heterozygous mutations within ANO5 were identified by whole exome sequencing (WES). Patients varied in the age of the disease onset (from 22 to 38 years) and severity of the morphological and clinical phenotypes.
View Article and Find Full Text PDFThe Liver Imaging-Reporting and Data System (LI-RADS or LR) is a classification system for reading and reporting imaging studies in patients with high risk for hepatocellular carcinoma (HCC). One of its main goals is to improve communication between specialties, especially radiologists, hepatologists, surgeons, and pathologists. LI-RADS defines imaging features of the lesions and stratifies the risk of HCC into categories.
View Article and Find Full Text PDFPurpose: The purpose of this study was to assess and compare diagnostic ability of LI-RADS (LR) v. 2017 and ESGAR guidelines in hepatocellular carcinoma (HCC) diagnosis using MRI with hepatobiliary contrast agents.
Methods: Seventy pathologically confirmed lesions in 32 patients (24 males and 8 females) who had MRI with hepatobiliary contrast done before surgery or biopsy were reviewed retrospectively.