Publications by authors named "D Kuczynski"
Article Synopsis
- * The Banff Working Group introduced a new classification for PyVAN based on viral load and interstitial fibrosis levels to better understand and categorize the condition.
- * In a study of 124 kidney transplant patients, the new classification did not effectively predict risk for graft failure, with class 3 showing the worst outcomes but no significant differences between classes 1 and 2; additional factors like post-transplant timing and inflammation also played a role in graft failure.
Diseases related to DNA polymerase gamma dysfunction comprise of heterogeneous clinical presentations with variable severity and age of onset. Molecular screening for the common POLG variants: p.Ala467Thr, p.
View Article and Find Full Text PDFBackground: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by increased mammalian target of rapamycin (mTOR) activation and growth of benign tumors in several organs throughout the body. In young children with TSC, drug-resistant epilepsy and subependymal giant cell astrocytomas (SEGAs) present the most common causes of mortality and morbidity. There are also some reports on the antiepileptic and antiepileptogenic potential of mTOR inhibitors in TSC.
View Article and Find Full Text PDFBackground: Epilepsy appears in 70-80% of patients with tuberous sclerosis complex, most commonly in the first year of age. Early manifestation of epilepsy is associated with drug-resistant epilepsy and mental retardation in more than 80% of patients. Clinical epileptic seizures are preceded by deterioration of EEG recording thus infants with high risk of epilepsy can be identified.
View Article and Find Full Text PDFPurpose: The aim of the study was to reveal the relationships between the tuber count of the brain found in patients with tuberous sclerosis complex (TSC) and their cognitive outcome.
Methods: A single-center, retrospective analysis was performed of patients with documented TSC seen from 1988 to 2010 at the Children's Memorial Health Institute, Warsaw, Poland.
Key Findings: Sixty-two patients were analyzed, and there was a significant correlation between younger age at the first seizure and developmental delay.