Generation of two iPSC lines (MHHi001-A-12 and MHHi001-A-13) carrying biallelic truncating mutations at the 3'-end of SRCAP using CRISPR/Cas9.

Non-Floating Harbour Syndrome (FLHS) neurodevelopmental disorder (NDD) is a recently described disorder caused by mutations in certain regions of the SRCAP gene. We generated two iPSC lines that contain truncating mutation on both alleles at the 3'-end of SRCAP using CRISPR/Cas9 technology. Both cell lines are pluripotent, differentiate into the 3 germ layers and contain no genomic aberrations or off-target modifications.

Initial experience on abdominal photon-counting computed tomography in clinical routine: general image quality and dose exposure.

Objectives: Photon-counting computed tomography has lately found its way into clinical routine. The new technique could offer substantial improvements regarding general image quality, image noise, and radiation dose reduction. This study evaluated the first abdominal examinations in clinical routine and compared the results to conventional computed tomography.

Preoperative Alpha-Fetoprotein and Radiological Total Tumor Diameter as Predictors of Hepatocellular Carcinoma Recurrence After Liver Transplantation.

Background: Liver transplantation is a unique treatment opportunity for patients with chronic liver disease and hepatocellular carcinoma (HCC). Selection of HCC patients for transplantation was revolutionized by Milan-based criteria, but tumor recurrence and shortage of organs are still a major concern. Nowadays, additional preoperative tumor parameters can help to refine the graft allocation process.

Liver Transplant and Active Ulcerative Colitis: A Case Report.

Background: The association between ulcerative colitis (UC) and primary sclerosing cholangitis has been described for several years and can be classified as having a distinct disease phenotype from inflammatory bowel diseases (IBD). The simultaneous occurrence of decompensated liver disease requiring liver transplant and active IBD is a management challenge, considering that these patients may be at increased risk of infections, thromboembolic events, bleeding, and drug hepatotoxicity.

Case Presentation: We describe a case of a 37-year-old patient with UC and sclerosing cholangitis presenting with severe decompensated rectocolitis complicated with thromboembolic phenomena and severe liver dysfunction who underwent liver transplant while using biological therapy to control bowel disease.

Progressive Familial Intrahepatic Cholestasis Type 2 and Recurrence After Liver Transplantation: A Case Report.

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare autosomal recessive disorder caused by mutations in the ABCB11 gene. Clinical manifestations include cholestasis with low γ-glutamyltransferase (GGT), hepatosplenomegaly, and severe pruritus. Liver transplantation is required for individuals with progressive liver disease or failure of the bypass procedure and has been considered curative.