Publications by authors named "P Dolezalova"

The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was performed. The mutational hot spot located in exon 4 was Sanger sequenced in all three probands.

View Article and Find Full Text PDF
Article Synopsis
  • Scientists worked on a special test called JDMAI to help doctors understand how active a disease called juvenile dermatomyositis is in kids.
  • They looked at information from 139 kids during a study and found numbers (cut-offs) that show different levels of the disease: inactive, low, moderate, and high activity.
  • The test is good at showing the disease's status by comparing it to how the kids feel and how they do in daily life, and it's ready to be used in hospitals and research.
View Article and Find Full Text PDF
Article Synopsis
  • The study evaluated the effectiveness of two sets of classification criteria for Granulomatosis with Polyangiitis (GPA) in pediatric patients, comparing the ACR/EULAR criteria with the Ankara 2008 criteria.
  • Data from 77 pediatric patients with GPA were analyzed, revealing high sensitivity (94.8%) and specificity (95.3%) for the Ankara criteria, while the ACR/EULAR criteria showed similar rates (89.6% sensitivity and 96.3% specificity).
  • The results indicate that both classification criteria are reliable and perform similarly in diagnosing GPA in children.
View Article and Find Full Text PDF

Objectives: The 2016 ACR-EULAR Response Criteria for JDM was developed as a composite measure with differential weights of six core set measures (CSMs) to calculate a Total Improvement Score (TIS). We assessed the contribution of each CSM, representation of muscle-related and patient-reported CSMs towards improvement, and frequency of CSM worsening across myositis response criteria (MRC) categories in validation of MRC.

Methods: Data from JDM patients in the Rituximab in Myositis trial (n = 48), PRINTO JDM trial (n = 139), and consensus patient profiles (n = 273) were included.

View Article and Find Full Text PDF