Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis.
Ann Biol Clin (Paris)
May 2023
Biochemistry Department, Military Hospital of Tunis, Monfleury, 1008, Tunis, Tunisia.
Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed by mutation analysis of the albumin gene in a 35-year-old man presenting recurrent acute coronary syndrome. To the best of our knowledge, only two cases of coronary artery disease have been reported worldwide without recurrence.
View Article and Find Full Text PDFMultiple Myeloma with Aberrant CD3 Expression in a Red-Lored Amazon Parrot ().
J Avian Med Surg
November 2022
Department of Clinical Sciences, College of Veterinary Medicine and Biomedical Sciences,
Article Synopsis
- A 20-year-old female red-lored Amazon parrot presented with weakness, distended abdomen, and anemia, leading to diagnostic imaging that revealed multiple health issues, including coelomic distention and potential neoplastic changes.
- Blood tests indicated high levels of proteins and abnormalities consistent with neoplastic cells, ultimately leading to a diagnosis of multiple myeloma.
- Due to a poor prognosis, the parrot was euthanized for further examination, which confirmed the presence of neoplastic plasma cells in various organs, solidifying the multiple myeloma diagnosis.
Variations in the Human Serum Albumin Gene: Molecular and Functional Aspects.
Int J Mol Sci
January 2022
Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
The human albumin gene, the most abundant serum protein, is located in the long arm of chromosome 4, near the centromere, position 4q11-3. It is divided by 14 intervening introns into 15 exons, the last of which is untranslated. To date, 74 nucleotide substitutions (mainly missense) have been reported, determining the circulating variants of albumin or pre-albumin.
View Article and Find Full Text PDFOxidative stress mediated platelet activation in patients with congenital analbuminemia: Effect of albumin infusion.
J Thromb Haemost
December 2021
Department of Clinical Internal, Anaesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Rome, Italy.
Background And Aims: Congenital analbuminemia is a rare autosomal recessive inherited disorder characterized by strongly decreased concentration, or complete absence, of serum albumin (SA). Several lines of evidence indicate that SA has anti-thrombotic effect. In vivo platelet function and the role of oxidative stress (OS) in platelet aggregation promotion have never been studied in analbuminaemic patients.
View Article and Find Full Text PDF[Congenital analbuminemia complicated by relapsing acute coronary syndrome : A case report and literature review].
Ann Cardiol Angeiol (Paris)
October 2021
Service de biochimie clinique de l'hôpital militaire de Tunis, Tunisie.
Congenital analbuminemia (CAA) is a very rare disorder with an estimated prevalence of less than one in one million. This anomaly can be lethal at birth and in early infancy but it's not very symptomatic in adulthood. The clinical signs are edema, lipodystrophy, fatigue… Hypercholesterolemia is the main biological disorder and it predisposes to cardiovascular complications.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!