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Role of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.
Cureus
December 2024
Department of Pathology, Ranga Raya Medical College, Kakinada, IND.
Chediak-Higashi syndrome (CHS) is a rare multisystem genetic disorder of childhood, caused by a defect in vesicular trafficking, which is an essential process for intracellular transport. This defect results in the formation of giant cytoplasmic granules in various cell types, including white blood cells, melanosomes, and Schwann cells. The presence of giant lysosomal granules in neutrophils and their precursors is a distinct and diagnostic feature of CHS, differentiating it from other childhood immunodeficiency disorders, such as Griscelli syndrome and Hermansky-Pudlak syndrome, which share common characteristics like albinism and increased susceptibility to fatal hemophagocytic lymphohistiocytosis.
View Article and Find Full Text PDFSystemic siliconomas following breast implant rupture.
BMJ Case Rep
January 2025
General Surgery, Universidade de Lisboa Faculdade de Medicina, Lisboa, Portugal.
We report a case of a woman in her late 40s with a history of breast implant surgery following breast cancer treatment. She presented with asymmetrical breast enlargement, palpable contralateral axillary lymph nodes and cutaneous nodules on both forearms. In addition, imaging evaluation revealed intracapsular implant rupture, ipsilateral internal mammary enlarged lymph nodes and multiple mediastinal lymphadenopathies.
View Article and Find Full Text PDFRecurrence of a Giant-Cell Tumor of the Wrist with Malignant Transformation and Pulmonary Metastases Treated with a Custom-Made Prosthesis.
Hand Surg Rehabil
January 2025
Università Cattolica del Sacro Cuore, Rome, Italy; UOC Ortopedia e Traumatologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Localized Pigmented Villonodular Synovitis in the Shoulder: Report of a Case Treated through Arthroscopy.
Rev Bras Ortop (Sao Paulo)
November 2024
Serviço de Ortopedia e Traumatologia, Hospital Santa Rita de Cássia, Vitória, ES, Brasil.
Pigmented villonodular synovitis (PVNS) is rare in the shoulder, with few descriptions in the literature. We present the case of a 58-year-old female patient with no history of trauma. The patient reported pain for 2 months with no limb irradiation and presented lifting strength loss and progressive limitation of active and passive mobility.
View Article and Find Full Text PDFImpact of antiphospholipid syndrome on placenta and uterine NK cell function: insights from a mouse model.
Sci Rep
December 2024
Laboratory of Molecular and Cellular Immunology, Institute of Molecular Biology NAS RA, 7 Hasratyan Str., Yerevan, 0014, Armenia.
Antiphospholipid syndrome (APS) is associated with recurrent pregnancy morbidity, yet the underlying mechanisms remain elusive. We performed multifaceted characterization of the biological and transcriptomic signatures of mouse placenta and uterine natural killer (uNK) cells in APS. Histological analysis of APS placentas unveiled placental abnormalities, including disturbed angiogenesis, occasional necrotic areas, fibrin deposition, and nucleated red blood cell enrichment.
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