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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 PDFDirect Hepatic Vein Connection to Left Atrium Without Congenital Anomaly in Adult Heart Disease.
Ann Thorac Surg Short Rep
March 2023
Department of Thoracic and Cardiovascular Surgery, Asan Medical Center, Seoul, Korea.
Anomalous hepatic venous connection without other cardiac anomalies is a rare condition but does not have high clinical significance. We describe a patient in whom a portion of the left hepatic vein was directly connected to the left atrium, without intracardiac or extracardiac anomalies. A left-to-right shunt with tricuspid regurgitation and atrial fibrillation occurred from right atrial volume overload.
View Article and Find Full Text PDFThe Impact of Inferior Vena Cava Anomalies on Deep Vein Thrombosis: A Case Report.
Cureus
December 2024
Cardiology, Lower Bucks Hospital, Bristol, USA.
Inferior vena cava (IVC) anomalies are rare congenital pathologies related to variations of agenesis, hypoplasia, or atresia, predisposing patients to thromboembolic events secondary to an alteration in venous drainage with resultant stasis. This is a case report of a 27-year-old male without significant medical history presenting for a fall after playing recreational basketball with associated pain and swelling in his left lower extremity. After his symptoms progressively worsened, he came to the emergency room for an evaluation where an ultrasound (US) of the extremity showed extensive deep vein thromboses (DVT).
View Article and Find Full Text PDFOutcomes for Children With Congenital Heart Disease Undergoing Ventricular Assist Device Implantation: An ACTION Registry Analysis.
J Am Coll Cardiol
December 2024
Division of Cardiology, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Background: There are no contemporary reports that highlight the national outcomes for children with congenital heart disease (CHD) undergoing ventricular assist device (VAD) implantation.
Objectives: This study sought to evaluate differences in VAD outcomes for children with CHD to those with non-CHD as well as those with univentricular CHD to those with biventricular CHD.
Methods: Data for CHD and non-CHD patients from the multicenter ACTION (Advanced Cardiac Therapies Improving Outcomes Network) undergoing VAD implantation from April 2018 to February 2023 were included.
The Causal Role of Ectopic Fat Deposition in the Pathogenesis of Metabolic Syndrome.
Int J Mol Sci
December 2024
Department of Internal Medicine, Erasmus Medical Center (Erasmus MC), Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Consuming a "modern" Western diet and overnutrition may increase insulin secretion. Additionally, nutrition-mediated hyperinsulinemia is a major driver of ectopic fat deposition. The global prevalence of metabolic syndrome is high and growing.
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