Machine perfusion organ preservation: Highlights from the American transplant congress 2024.

The American Transplant Congress (ATC) 2024, held in Philadelphia, serves as a vital platform for unveiling new research and clinical experience in organ machine perfusion-a key area in organ transplantation. This year's congress gathered 4652 participants from 49 countries, including top experts, to spotlight innovations in machine perfusion across various organ types, such as the liver, kidney, heart, and lung. A total of 87 abstracts on organ machine perfusion were presented.

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.

ATPase, class 1, type 8 A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 are known to cause cerebellar ataxia, impaired intellectual development, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings born from a consanguineous, first-cousin union from Sudan presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum.

Successful Liver Transplant From a Donor With Sickle Cell Disease.

Sickle cell disease patients have routinely been excluded from liver transplant donation due to patients historically manifesting liver disease themselves. Marginal donors have become increasingly more welcome given organ shortage. Our institution performed a liver transplant in a recipient with cholangiocarcinoma using a sickle cell disease donor liver.

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of -related disorders caused by missense changes.

ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in are known to cause cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings presenting with global developmental delay, intellectual disability, spasticity, ataxia, nystagmus, and thin corpus callosum.

Machine perfusion organ preservation: Highlights from the American Transplant Congress 2023.

The American Transplant Congress (ATC) 2023, held in San Diego, California, emerged as a pivotal platform showcasing the latest advancements in organ machine perfusion, a key area in solid organ and tissue transplantation. This year's congress, attended by over 4500 participants, including leading experts, emphasized innovations in machine perfusion technologies across various organ types, including liver, kidney, heart, and lung. A total of 85 abstracts on organ machine perfusion were identified.