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Siblings With Berardinelli-Seip Congenital Lipodystrophy: Clinical Insights and Challenges.
Cureus
December 2024
Pharmacy, Punjab University College of Pharmacy, Lahore, PAK.
Berardinelli-Seip congenital lipodystrophy (BSCL), also known as congenital generalized lipodystrophy (CGL), is an exceptionally rare autosomal recessive disorder marked by a significant deficiency of adipose tissue throughout the body. This lack of adipose tissue, normally found beneath the skin and between internal organs, leads to impaired adipocyte formation and fat storage, causing lipids to accumulate in atypical tissues such as muscles and the liver. The extent of adipose tissue loss directly influences the severity of symptoms, which can include a muscular appearance, increased appetite, bone cysts, marrow fat depletion, acromegalic features, severe insulin resistance, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, hepatic steatosis, hepatomegaly, cirrhosis, and intellectual disability.
View Article and Find Full Text PDFC-X-C motif chemokine receptor 4-directed PET signal in the arterial tree is not consistently linked to calcified plaque burden and cardiovascular risk.
Theranostics
January 2025
Department of Nuclear Medicine, University Hospital Würzburg, Würzburg, Germany.
To establish the extent, distribution and frequency of in-vivo vessel wall [Ga]Ga-PentixaFor uptake and to determine its relationship with calcified atherosclerotic plaque burden (CAP) and cardiovascular risk factors (CVRF). 65 oncological patients undergoing [Ga]Ga-PentixaFor PET/CT were assessed. Radiotracer uptake (target-to-background ratio [TBR]) and CAP burden (including number of CAP sites, calcification circumference and thickness) in seven major vessel segments per patient were determined.
View Article and Find Full Text PDFPremature Calcification of Costochondral Cartilage: A Scoping Review of the Literature.
Cureus
December 2024
Family Medicine, SingHealth Polyclinics, Singapore, SGP.
Premature costochondral calcification is a rare finding occurring in young patients and is associated with metabolic and endocrinological conditions. Significant heterogeneity exists with regard to its definition and assessment. This scoping review aimed to summarize the prevalence, risk factors, etiology, evaluation, and management of patients with premature costochondral calcification.
View Article and Find Full Text PDFComputer-aided diagnosis of hepatic cystic echinococcosis based on deep transfer learning features from ultrasound images.
Sci Rep
January 2025
College of Medical Engineering and Technology, Xinjiang Medical University, Urumqi, 830017, China.
Hepatic cystic echinococcosis (HCE), a life-threatening liver disease, has 5 subtypes, i.e., single-cystic, polycystic, internal capsule collapse, solid mass, and calcified subtypes.
View Article and Find Full Text PDFAn anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone.
J Anat
December 2024
Human Anatomy Resource Centre, Education Directorate, University of Liverpool, Liverpool, UK.
Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolised homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic pigmentation, derived from HGA, has previously been reported and described in large joints obtained from arthroplasty surgeries, which typically have advanced disease.
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