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A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.
J Clin Lipidol
December 2024
Internal Medicine Department, Coimbra's Healthcare Integrated Delivery System, Praceta Professor Mota Pinto, 3004-561, Coimbra, Portugal.
Tangier disease is an extremely rare autosomal recessive monogenic disorder caused by mutations in the ATP binding cassette transporter A1 gene (ABCA1). It is characterized by severe deficiency or absence of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA1), with highly variable clinical presentations depending on cholesterol accumulation in macrophages across different tissues. We report a case of a 47-year-old man with very low HDL-C and very high triglyceride levels, initially attributed to the patient's metabolic syndrome, alcohol abuse, and splenomegaly.
View Article and Find Full Text PDFThe clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFLongitudinal Follow-Up of Clinical Superficial Ovine Caseous Lymphadenitis.
Animals (Basel)
December 2024
Namur Research Institute for Life Sciences NARILIS, University of Namur, 5000 Namur, Belgium.
Caseous lymphadenitis is an infectious disease that has a significant economic impact on sheep breeding. The objectives of this study were to evaluate the effect of season, animals' age, sex, body score and shearing on the clinical incidence of caseous lymphadenitis, relapses and abscess location in sheep from Settat province, Morocco. In this longitudinal study, 274 clinically healthy sheep were recruited in six flocks among 1451 inspected sheep and followed during 12 months to cover four seasons.
View Article and Find Full Text PDFHydatid Disease With Psoas and Gluteal Muscle Involvement Causing Cauda Equina Compression: A Case Report.
Cureus
November 2024
General Surgery, Tangier University Hospital, Abdelmalek Essaâdi University, Tangier, MAR.
Hydatid disease is a zoonotic infection caused by the tapeworm, primarily affecting the liver and lungs, and rarely involving muscle tissue. Humans are infected by ingesting eggs from contaminated food or water. Patients may present with painless, slow-growing masses, sometimes associated with nerve or vessel compression, especially in cases of muscle involvement.
View Article and Find Full Text PDFPrimary Hypoalphalipoproteinemia With Significant Premature Atherosclerosis.
JACC Case Rep
December 2024
Cardiology Division, Department of Medicine, Stony Brook University Hospital, Stony Brook, New York, USA.
Primary hypoalphalipoproteinemia is typically caused by genetic disorders and is characterized by low high-density-lipoprotein cholesterol (HDL-C). Low HDL-C has been proposed to confer an increased risk of atherosclerotic cardiovascular disease; however, a causal relationship has not been determined. We describe the case of an otherwise healthy and asymptomatic 37-year-old woman with severely low HDL-C who was found to have significant coronary artery disease in whom genetic testing supported a diagnosis of Tangier disease.
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