Publications by authors named "E Pfister"
Article Synopsis
- The study analyzed 1645 liver transplants, focusing on 421 pediatric cases at Hannover Medical School from 2005 to 2021, highlighting the lack of comprehensive data in this area.
- It found that pleural effusions were the most common postoperative complications (49.4%), with donor age and recipient age being significant risk factors for developing them.
- The authors suggest that preventive measures like intraoperative chest drain placement may improve outcomes, particularly for those at risk of biliary complications and retransplantation.
Article Synopsis
- A missense mutation in the Nucleus accumbens-associated 1 (NACC1) gene causes severe neurodevelopmental delays, as shown by the engineered mouse model with the same mutation.
- The model exhibited symptoms like delayed weight gain, seizures, altered brain activity, and specific behaviors, particularly in females.
- RNA sequencing from the mutant mice indicated substantial changes in gene expression related to synaptic functions and metabolism, suggesting potential targets for therapy in autism-related disorders.
Crigler-Najjar Syndrome (CNS) with residual activity of UDP-glucuronosyltransferase 1A1 () and no need for daily phototherapy is called mild Crigler-Najjar Syndrome. Most of these patients need medical treatment for enzyme induction (phenobarbital) to lower blood levels of unconjugated bilirubin (UCB). Apart from this, no long-term problems have been described so far.
View Article and Find Full Text PDFBackground & Aims: Antibody-induced bile salt export pump deficiency (AIBD) is an acquired form of intrahepatic cholestasis, which may develop following orthotopic liver transplantation (OLT) for progressive familial intrahepatic cholestasis type 2 (PFIC-2). Approximately 8-33% of patients with PFIC-2 who underwent a transplant develop bile salt export pump (BSEP) antibodies, which trans-inhibit this bile salt transporter from the extracellular, biliary side. AIBD is diagnosed by demonstration of BSEP-reactive and BSEP-inhibitory antibodies in patient serum.
View Article and Find Full Text PDFWilson's disease (WD, MIM#277900) is an autosomal recessive disorder resulting in copper excess caused by biallelic variants in the ATP7B gene (MIM#606882) encoding a copper transporting P-type ATPase. ATP7B variants of unknown significance (VUS) are detected frequently, sometimes impeding a clear diagnosis. Functional analyses can help to classify these variants as benign or pathogenic.
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