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Acid sphingomyelinase deficiency and Gaucher disease: Underdiagnosed and often treatable causes of hepatomegaly, splenomegaly, and low HDL cholesterol in lean individuals.
Hepatol Commun
January 2025
Research and Development, Sanofi, Cambridge, Massachusetts, USA.
Background: Acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are rare inherited sphingolipid disorders with multisystemic manifestations, including liver disease and dyslipidemia. Despite effective treatments, insufficient disease awareness frequently results in diagnostic delays during which irreversible complications occur. We delineated the shared and distinctive features of hepatic, splenic, and lipoprotein phenotypes in ASMD and GD1.
View Article and Find Full Text PDFAcute Necrotizing Pancreatitis Leading to Hemosuccus Pancreaticus and Hemorrhagic Shock in the Setting of Decompensated Cirrhosis.
Cureus
December 2024
Department of Gastroenterology, Scripps Mercy Hospital, San Diego, USA.
Hemosuccus pancreaticus (HP) is a rare, life-threatening cause of upper gastrointestinal bleeding, often linked to chronic pancreatitis and pseudoaneurysm rupture into the pancreatic duct. However, its occurrence in acute necrotizing pancreatitis with decompensated cirrhosis is exceedingly rare and poses significant diagnostic and treatment challenges. We report a case of a 34-year-old male with decompensated alcoholic cirrhosis who developed hemorrhagic shock from HP following acute necrotizing pancreatitis.
View Article and Find Full Text PDFDyslipidemia patterns and associated factors in Wilson's disease patients: a clinical analysis.
Front Neurol
November 2024
Renji Hospital, Shanghai Jiao Tong University Medical School, Shanghai, China.
Article Synopsis
- This study investigates lipid metabolism in patients with Wilson's Disease (WD) to uncover risk factors for dyslipidemia, aiming to improve diagnostic and treatment approaches for unexplained lipid issues.* -
- Results show that 47.73% of Wilson's disease patients have abnormal lipid levels, significantly higher than the control group, with specific metrics indicating links between liver health and lipid profiles.* -
- The study concludes that adolescents with WD are particularly prone to lipid metabolism problems, with liver damage correlating to higher triglycerides and cholesterol, while glucose metabolism appears unaffected.*
Atraumatic Splenic Rupture Unveiling Mumps With an Underlying B-cell Lymphoid Hyperplasia: A Diagnostic Conundrum.
Cureus
October 2024
Emergency Medicine, Southern Health and Social Care Trust, Craigavon, GBR.
Atraumatic splenic rupture (ASR) is an unfamiliar entity that is potentially life-threatening if there is a delay in the diagnosis. Due to its rarity and its non-specific presentation, it can be a challenge to diagnose early. In this report, we present a case of a 42-year-old male patient who presented to the emergency department with nonspecific abdominal pain and had no past medical history.
View Article and Find Full Text PDFNeurosarcoidosis in a 67-Year-Old Male Without Pulmonary Involvement: A Case Report.
Cureus
September 2024
Internal Medicine, Ittefaq Hospital, Lahore, PAK.
Article Synopsis
- Neurosarcoidosis is a rare form of sarcoidosis that complicates the nervous system, making it challenging to diagnose and treat due to its diverse symptoms.
- A case of a 67-year-old man showed signs like altered sensorium and weight loss, leading to tests that eventually diagnosed him with neurosarcoidosis based on imaging and biopsy results.
- Treatment with prednisolone and methotrexate resulted in significant improvement, illustrating the need for a multidisciplinary approach in handling such complex cases.
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