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Unmasking eosinophilic granulomatosis with polyangiitis (EGPA).
Eur J Intern Med
October 2024
Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Scientific Institute Milan, Italy; Università Vita-Salute San Raffaele Milan, Italy. Electronic address:
Unmasking the Veiled Intruder: A Complicated Case of Eosinophilic Fasciitis.
Cureus
July 2024
Rheumatology, Allergy, and Immunology, Stony Brook University, Stony Brook, USA.
Article Synopsis
- - Eosinophilic fasciitis (EF) is a rare disease that causes skin and fascia to thicken, but it doesn’t affect internal organs or have specific autoantibodies, with the presence of eosinophils in blood being a key feature
- - Patients with EF may experience symptoms like joint pain and contractures because of tissue fibrosis
- - A case study highlights a patient with skin thickening in her limbs, diagnosed through a skin biopsy, emphasizing the need to identify EF's specific clinical and microscopic traits
Unmasking the Culprits in Eosinophilic Esophagitis Pathogenesis.
N Engl J Med
June 2024
From the Division of Allergy, Asthma, and Clinical Immunology, Department of Medicine, Mayo Clinic Arizona, Scottsdale, and the Division of Allergy and Immunology, Phoenix Children's Hospital, Phoenix - both in Arizona.
Cherubism Unmasked: A Case Report of Clinical and Histopathological Presentation.
Cureus
March 2024
Oral Pathology and Microbiology, Sharad Pawar Dental College and Hospital, Datta Meghe Institute of Higher Education & Research, Wardha, IND.
Cherubism, an uncommon genetic disorder, manifests as painless swelling in both jaws. A 20-year-old male presented with symmetrical swelling in both the mandible and maxilla. The jaws exhibited bilateral expansion, typical of this condition.
View Article and Find Full Text PDFBeyond typical histology of BAP1-inactivated melanocytoma.
Pathol Res Pract
July 2024
IDP Dermatohistopathologie Institut, Pathologie Institut Enge, Zurich, Switzerland.
BAP1-inactivated melanocytoma (BIM) is a novel subgroup of melanocytic neoplasm listed in the 5th edition of WHO classification of skin tumor. BIM is characterized by two molecular alterations, including a mitogenic driver mutation (usually BRAF gene) and the loss of function of BAP1, a tumor suppressor gene located on chromosome 3p21, which encodes for BRCA1-associated protein (BAP1). The latter represents a nuclear-localized deubiquitinase involved in several cellular processes including cell cycle regulation, chromatin remodeling, DNA damage response, differentiation, senescence and cell death.
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