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Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot study.
Mol Genet Metab
January 2025
Division of Medical Genetics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, QC, Canada. Electronic address:
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is an X-linked lysosomal storage disorder. It results from a deficiency of the enzyme iduronate-2-sulfatase (I2S), leading to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs. Clinical manifestations include skeletal abnormalities, facial coarsening, organ enlargement, and developmental delays.
View Article and Find Full Text PDFRisk factors associated with pain and pain relief in patients with chronic pancreatitis.
Postgrad Med J
January 2025
Department of Gastroenterology, Affiliated Hospital of Qingdao University, No. 16 Jiangsu Road, Shinan District, Qingdao 266075, China.
Background: Abdominal pain is one of the most prominent symptoms in patients with chronic pancreatitis (CP) and can manifest intermittently or persistently. The mechanism of pain is not yet clear, and no effective treatment is currently available. This study aimed to explore the risk factors for pain in patients with CP, which may provide new insights for developing effective pain control modalities.
View Article and Find Full Text PDF[Neurological side-effects associated with immune checkpoint inhibitors].
Ned Tijdschr Geneeskd
January 2025
Leids Universitair Medisch Centrum, afd. Neurologie, Leiden.
The use of checkpoint inhibitors has shown significant clinical benefit in various cancer types but also carries a risk of immune-related adverse events (irAEs). As the use of checkpoint inhibitors continues to rise, so does the incidence of irAEs. Among these, neurological adverse events (neuro-irAEs) are particularly challenging to detect since they can manifest with a wide range of symptoms, often mimicking disease progression.
View Article and Find Full Text PDFErdheim Chester Disease with Calvarial Involvement: A rare case of Histiocytosis.
Turk Neurosurg
March 2024
SBÜ Gaziosmanpaşa Eğitim ve Araştırma Hastanesi.
Erdheim-Chester Disease is a rare systemic xanthogranulomatous infiltrating disease, characterized by lipid-laden histiocytes accumulating in various organs and almost always in bones. Etiology of the disease is still unknown. It may involve various organs and systems, such as musculoskeletal, cardiac, pulmonary, renal, gastrointestinal and central nervous system (CNS) as well as the skin.
View Article and Find Full Text PDFCase report of neurobrucellosis: a rare complication and neuroimaging findings of a common disease.
Front Immunol
January 2025
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Background And Objective: Neurobrucellosis is a rare neurological disorder characterized by diverse clinical manifestations. Although several relevant cases were reported, our understanding of this disorder is limited. In this study, we presented the clinical and imaging characteristics of four cases of neurobrucellosis.
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