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Poikiloderma with neutropenia: a case report.
J Med Case Rep
January 2025
Department of Pediatrics, University Children Hospital, Damascus University, Damascus, Syria.
Background: Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia.
Case Presentation: Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria.
Case report: A cyclic neutropenia patient with mutation accompanied by hemophagocytic lymphohistiocytosis.
Front Immunol
December 2024
National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Many inborn errors of immunity may accompany secondary hemophagocytic lymphohistiocytosis (HLH), a condition typically characterized by impaired cytotoxic T and NK cell function. A considerable proportion of HLH cases also stem from chronic granulomatosis with phagocytic dysfunction. However, the development of secondary HLH in patients with severe congenital neutropenia (SCN) or cyclic neutropenia (CyN) with abnormal phagocytic cell counts has been less frequently reported.
View Article and Find Full Text PDFGingival Necrosis Associated with Septic Shock of Unknown Origin in Patient with Systemic Lupus Erythematosus: A Case Report.
Bull Tokyo Dent Coll
December 2024
Oral Health Center, Tokyo Medical and Dental University Hospital.
A 38-year-old woman with a history of systemic lupus erythematosus presented at our university hospital with fever, fatigue, and oral pain and was urgently admitted based on a diagnosis of septic shock. Initially, dental infection was suspected based on the symptoms and clinical presentation of purpura accompanied by severe tenderness along the marginal gingiva in the maxilla and mandible. However, subsequent investigations, including an oral examination, radiographic studies, and blood cultures, ruled out dental infection as the cause of the septic shock.
View Article and Find Full Text PDFIsolated Severe Neutropenia in Adults, Evaluation of Underlying Causes and Outcomes, Real-World Data Collected over a 5-Year Period in a Tertiary Referral Hospital.
Medicina (Kaunas)
September 2024
Department of Hematology and Central Hematological Laboratory, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland.
: In clinical practice, neutropenia is frequently accompanied by other cytopenia; isolated non-chemotherapy-induced severe neutropenia is less frequent and its differential diagnosis can be challenging. In this real-world study with data collected over a 5-year period in a tertiary referral hospital, we primarily sought to identify underlying causes of isolated severe neutropenia (<0.5 × 10/L).
View Article and Find Full Text PDFFebrile neutropenia induced by adjuvant radiotherapy for a patient with breast cancer accompanied with reversible splenial lesion syndrome (RESLES, TypeI): a case report.
BMC Neurol
September 2024
Department of Oncology, Tianjin Union Medical Center, Nankai University, Tianjin, China.
Article Synopsis
- - Reversible splenial lesion syndrome (RESLES) is a neuro-imaging condition characterized by temporary lesions in the corpus callosum, often presenting with mild brain symptoms but showing up clearly on brain imaging; it's rarely discussed in cancer contexts.
- - A 33-year-old woman with breast cancer experienced high fever and severe headaches following radiation therapy, leading to a diagnosis of RESLES after blood tests indicated low white blood cell counts and MRI suggested the syndrome rather than infection or metastasis.
- - The case emphasizes the need for oncologists to accurately interpret brain imaging and consider RESLES in post-radiotherapy patients, indicating that the syndrome has various causes and requires further investigation into its underlying mechanisms.
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