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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 PDFUsefulness of Portable Ultrasound for the Diagnosis of Hepatic Steatosis and Degree of Agreement With Macroscopic and Microscopic Findings of the Hepatic Graft Accepted for Transplantation.
Transplant Proc
January 2025
Donation and Transplant Coordination Section, Clínic Barcelona, Barcelona, Spain.
Background: The viability of the liver pre-transplant depends on the type of donor, age, medical history, circumstances of death, result of analytics, and complementary exploration of the abdominal cavity. Abdominal ultrasound is the initial option for the assessment of previously unknown liver disease, such as the qualitative determination of hepatic steatosis . The presence of hepatic steatosis is considered a risk factor for graft failure after liver transplantation, therefore, at the time of clinical assessment of the donor or its presence in the macroscopic assessment in the operating room can be cause for rejection of the organ by the transplant teams.
View Article and Find Full Text PDFDimeric guaianolide sesquiterpenoids from the flowers of Chrysanthemum indicum ameliorate hepatic steatosis through mitigating SIRT1-mediated lipid accumulation and ferroptosis.
J Adv Res
January 2025
State Key Laboratory of Quality Research in Chinese Medicine, Institute of Chinese Medical Sciences, University of Macau, Avenida da Universidade, Taipa, Macao 999078, China; Guangdong-Hong Kong-Macau Join Laboratory for Pharmacodynamic Constituents of TCM and New Drugs Research, University of Macau, Avenida da Universidade, Taipa, Macao 999078, China; Department of Pharmaceutical Sciences and Technology, Faculty of Health Sciences, University of Macau, Avenida de Universidade, Taipa, Macao 999078, China. Electronic address:
Introduction: Non-alcoholic fatty liver disease (NAFLD) acts as the primary contributor to non-alcoholic steatohepatitis, fibrosis, cirrhosis, and potentially hepatocellular carcinoma. The flowers of Chrysanthemum indicum, a traditional edible medicinal herb, have been widely used in China for more than 2000 years. However, the function of C.
View Article and Find Full Text PDFInsights on post-translational modifications in fatty liver and fibrosis progression.
Biochim Biophys Acta Mol Basis Dis
January 2025
Ion Channel Biology Laboratory, AU-KBC Research Centre, Madras Institute of Technology Campus, Anna University, Chrompet, Chennai 600 044, Tamil Nadu, India. Electronic address:
Metabolic dysfunction-associated steatotic liver disease [MASLD] is a pervasive multifactorial health burden. Post-translational modifications [PTMs] of amino acid residues in protein domains demonstrate pivotal roles for imparting dynamic alterations in the cellular micro milieu. The crux of identifying novel druggable targets relies on comprehensively studying the etiology of metabolic disorders.
View Article and Find Full Text PDFInsulin-Like Growth Factor-1 (IGF-1) Deficiency and Metabolic-Dysfunction-Associated Steatotic Liver Disease in a Young Patient.
Cureus
January 2025
Genetics Clinic, Karaiskakio Foundation, Nicosia, CYP.
Metabolic-dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disease in the Western world. MASLD-associated cirrhosis prevalence is on the rise along with the obesity and metabolic syndrome epidemic. Genetic factors are included in the multi-hit model of MASLD pathogenesis and insulin-like growth factor-1 (IGF-1) has an important role.
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