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Amyloidosis and Heart Transplantation in a New Era.
Clin Transplant
January 2025
Department of Cardiovascular Medicine, Mayo Clinic in Arizona, Scottsdale, Arizona, USA.
Background: The prognosis in patients with advanced cardiac amyloidosis (CA) remains poor.
Objectives: We sought to describe survival post heart transplantation (HT) in amyloid compared with non-amyloid recipients, highlight waitlist times within the new allocation system across three Organ Procurement and Transplantation Network (OPTN) regions, and describe multiorgan transplantation (MOT) in hereditary amyloidosis.
Methods: This is a retrospective review of end-stage CA patients who underwent HT at Mayo Clinic from January 2007 to December 2020.
Clinicopathologic, Proteomic and Outcome Characteristics of Renal Apolipoprotein C-II Amyloidosis: A Case Series.
Am J Kidney Dis
November 2024
Department of Laboratory Medicine and Pathology, Rochester, Minnesota. Electronic address:
Article Synopsis
- Amyloidosis derived from apolipoprotein C-II (AApoCII) is a rare condition that primarily affects the kidneys, presenting with symptoms like proteinuria and reduced kidney function, particularly in older patients.
- A study conducted with 25 cases from the Mayo Clinic revealed common histological characteristics, such as nodular amyloid deposits in glomeruli, and proteomic analysis identified specific Apo C-II variants in many patients.
- Despite significant kidney issues, including end-stage kidney disease in about half of the patients, the overall survival rate was more favorable, indicating potential for better outcomes in this condition.
AAVrh.10 delivery of novel APOE2-Christchurch variant suppresses amyloid and Tau pathology in Alzheimer's disease mice.
Mol Ther
December 2024
Department of Genetic Medicine, Weill Cornell Medical College, New York, NY, USA. Electronic address:
Gene therapy to treat hereditary disorders conventionally delivers the normal allele to compensate for loss-of-function mutations. More effective gene therapy may be achieved using a gain-of-function variant. We tested the hypothesis that AAVrh.
View Article and Find Full Text PDFPrevalence of genetically diagnosed familial hypercholesterolemia in Vietnamese patients with premature acute myocardial infarction.
Medicine (Baltimore)
September 2024
Department of Internal Medicine, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Article Synopsis
- - Familial hypercholesterolemia (FH) is a genetic disorder leading to high LDL cholesterol levels and is a significant cause of early coronary artery disease, especially in developing countries.
- - A study in Vietnam aimed to determine the prevalence of genetically defined FH among 218 patients with premature acute myocardial infarction (AMI), finding a 14.7% rate of potential FH diagnoses.
- - The study revealed that patients with FH had much higher LDL levels and more severe heart disease compared to those without FH, highlighting the need for better screening and management of this condition to mitigate cardiovascular risks.
[BLIRD - a new genetic disease in Holstein cattle in Switzerland].
Schweiz Arch Tierheilkd
October 2024
Institut für Genetik, Vetsuisse-Fakultät, Universität Bern.
Recently, a new hereditary disease, bovine lymphocyte intestinal retention defect (BLIRD), was discovered in Holstein cattle in France and is caused by a variant in the Integrin subunit beta 7 (ITGB7) gene. The altered cell adhesion molecule resulting from this point mutation is responsible for an impaired tissue of CD4 T lymphocytes from the blood to intestinal tissue. The aim of this study was to assess the allelic frequency of this deleterious variant in the local Holstein population and to clinically examine ten BLIRD-affected Holstein cattle from Switzerland in order to characterise the phenotype of this new hereditary disease, which is still unknown to the veterinary community.
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