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Second trimester medical abortion in acute promyelocytic leukaemia.
BMJ Case Rep
December 2024
Haematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Acute promyelocytic leukaemia (APL) is a highly lethal haematological malignancy. It is rare in pregnancy and may be fatal if not managed promptly and appropriately. A woman in her 20s presented with high-grade fever at 16 weeks of her third pregnancy.
View Article and Find Full Text PDFSmall-Molecule Modulators of Lipid Raft Stability and Protein-Raft Partitioning.
bioRxiv
December 2024
Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Development of an understanding of membrane nanodomains colloquially known as "lipid rafts" has been hindered by a lack of pharmacological tools to manipulate rafts and protein affinity for rafts. We screened 24,000 small molecules for modulators of the affinity of peripheral myelin protein 22 (PMP22) for rafts in giant plasma membrane vesicles (GPMVs). Hits were counter-screened against another raft protein, MAL, and tested for impact on raft , leading to two classes of compounds.
View Article and Find Full Text PDFGiant Cystic Pneumocytoma in a Young Male: Rare Diagnostic Conundrum with Clinicoradiological and Histopathological Features.
Indian J Radiol Imaging
January 2025
Department of Radiodiagnosis and Imaging, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Pulmonary sclerosing pneumocytoma is a rare benign neoplasm typically seen in middle-aged women. The exact preoperative diagnosis is quite challenging considering its nonspecific clinical and radiologic features along with complex histology. Moreover, obtaining an exact histopathological diagnosis can be difficult especially with the small biopsy specimens.
View Article and Find Full Text PDFLow-grade appendiceal mucinous neoplasm: A case report.
Medicine (Baltimore)
December 2024
Department of General Surgery, Nujiang Prefecture People's Hospital, Nujiang, Yunnan, China.
Rationale: Low-grade appendiceal mucinous neoplasm (LAMN) is a clinically rare tumor that predominantly occurs in females and presents with nonspecific symptoms, often resulting in misdiagnosis. While postoperative pathology remains the gold standard for diagnosis, accurate preoperative identification through various diagnostic methods is essential for effective treatment planning. To raise awareness of this condition, we present a case of a middle-aged male diagnosed with LAMN.
View Article and Find Full Text PDFGiant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.
J Neurol
December 2024
Department of Pediatric Neurology, Centre for Neuromuscular Disorders, C-TNBS, University Duisburg-Essen, Essen, Germany.
Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin protein. A treatment does not exist, but a first clinical trial using a gene therapy approach has recently been completed. Here, we conducted the first systematic study of GAN patients treated by German-speaking child neurologists.
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