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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 PDFThe Role of Myeloid Cells on the Development of Hepatic Metastases in Gastrointestinal Cancer.
Gastro Hep Adv
August 2024
Department of Surgery, University of Miami Miller School of Medicine, Miami, Florida.
The development of hepatic metastases is the leading cause of mortality in gastrointestinal (GI) cancers and substantial research efforts have been focused on elucidating the intricate mechanisms by which tumor cells successfully migrate to, invade, and ultimately colonize the liver parenchyma. Recent evidence has shown that perturbations in myeloid biology occur early in cancer development, characterized by the initial expansion of specific innate immune populations that promote tumor growth and facilitate metastases. This review summarizes the pathophysiology underlying the proliferation of myeloid cells that occurs with incipient neoplasia and explores the role of innate immune-host interactions, specifically granulocytes and neutrophil extracellular traps, in promoting hepatic colonization by tumor cells through the formation of the "premetastatic niche".
View Article and Find Full Text PDFA real-world drug safety surveillance study from the FAERS database of hepatocellular carcinoma patients receiving pembrolizumab alone and plus lenvatinib.
Sci Rep
January 2025
Department of Hepatobiliary and Pancreatic Surgery, Taihe Hospital, Affiliated Hospital of Hubei University of Medicine, Shiyan, 442000, Hubei, China.
Pembrolizumab plus Lenvatinib is regarded as a significant treatment option for advanced unresectable hepatocellular carcinoma (HCC). This study aims to meticulously monitor and identify adverse events (AEs) related to this combined therapy, enhance patient safety, and offer evidence-based recommendations for the appropriate use of these drugs. We gathered adverse drug reactions (ADRs)-related data from the FAERS database for HCC patients who received Pembrolizumab, both alone and in combination with Lenvatinib from the first quarter of 2014 to the fourth quarter of 2023.
View Article and Find Full Text PDFLiver Transplantation for Polycystic Disease: Experience and Results of a Single-Center Series.
Transplant Proc
January 2025
Hepatobiliary Surgery and Liver Transplantation Unit, Cruces University Hospital, Bilbao, Spain; BioBizkaia Research Health Institute, Barakaldo, Bizkaia, Spain. Electronic address:
Polycystic liver disease (PLD) is a hereditary condition, and its symptoms are due to the growth of cysts. Liver transplantation (LT) is the only curative treatment. A retrospective single-center analysis was conducted on the 10 LTs performed for PLD between 2004 and 2023.
View Article and Find Full Text PDFSpliced exon9 ADRM1 promotes liver oncogenicity via selective degradation of tumor suppressor FBXW7.
J Hepatol
January 2025
Department of Surgery, Sir Y.K. Pao Centre for Cancer, The Chinese University of Hong Kong, Shatin, Hong Kong, China. Electronic address:
Background & Aims: The ubiquitin receptor ADRM1/Rpn13 governs the specificity of eukaryotic protein degradation. By SMRT sequencing, we first discovered a novel spliced variant of ADRM1 with a skipped exon 9, termed ADRM1-ΔEx9, in human hepatocellular carcinoma (HCC). This study aimed to elucidate this novel ubiquitin receptor's underlying biology and clinical implications in HCC.
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