A5002686129- Renal Transplantation Outcomes and Treatments
- Renal Diseases and Glomerulopathies
- Lipoproteins and Cardiovascular Health
- Biomedical Research and Pathophysiology
- Genetic and Kidney Cyst Diseases
- Epigenetics and DNA Methylation
- Bipolar Disorder and Treatment
- Cancer, Lipids, and Metabolism
- Blood groups and transfusion
- Management and Organizational Practices
Poznan University of Medical Sciences
2022-2024
University of Science and Technology
2021
AGH University of Krakow
2021
Abstract Cranioectodermal dysplasia (CED) is rare heterogeneous condition. It belongs to a group of disorders defined as ciliopathies and associated with defective cilia function structure. To date six genes have been CED. Here we describe 4‐year‐old male CED patient whose features include dolichocephaly, multi‐suture craniosynostosis, epicanthus, frontal bossing, narrow thorax, limb shortening, brachydactyly. The presented early‐onset chronic kidney disease was transplanted at the age 2...
Saliva sampling is one of the methods therapeutic drug monitoring for mycophenolic acid (MPA) and its metabolite, glucuronide (MPAG). The study describes liquid chromatography tandem mass spectrometry (LC-MS/MS) method developed saliva MPA MPAG determination in children with nephrotic syndrome. mobile phase consisted methanol water at gradient flow, both 0.1% formic acid. Firstly, 100 µL was evaporated 45 °C 2 h to dryness, secondly, it reconstituted phase, finally 10 injected into LC-MS/MS...
Hipercholesterolemia to schorzenie charakteryzujące się poziomem cholesterolu całkowitego przewyższającym 200 mg/dl. Przełomem w jej leczeniu było wprowadzenie na rynek pierwszego z przedstawicieli grupy statyn – lowastatyny. Mechanizm działania polega hamowaniu aktywności reduktazy 3-hydroksy-3-metyloglutarylo-koenzymu A (HMG-CoA), czyli enzymu odpowiedzialnego za przekształcanie HMG-CoA do kwasu mewalonowego, stanowiącego główny substrat syntezie endogennego cholesterolu. Postęp badań...