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Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
View Article and Find Full Text PDFSkin and soft tissue infections in people migrating by sea to the Canary Islands, Spain.
Med Clin (Barc)
January 2025
Servicio de Medicina Interna, Hospital Nuestra Señora de la Candelaria, Santa Cruz de Tenerife, Tenerife, España.
Introduction: People migrating to the Canary Islands by sea frequently suffer from potentially severe skin and soft tissue infections (SSTIs) for which optimal empirical antibiotic therapy is not well defined.
Methods: This descriptive retrospective observational study assess a case series of newly arrived maritime migrants to the Canary Islands who were diagnosed with clinical and microbiological SSTIs and admitted to the Nuestra Señora de La Candelaria Hospital in Tenerife between January 2020 and December 2023. Clinical data, bacterial species, resistance profiles, and choice of empirical treatments were analysed.
Incidentally discovered inflammatory pseudotumour of the spleen: understanding clinical manifestations and diagnosis.
BMJ Case Rep
January 2025
Surgical Oncology, Guthrie Robert Packer Hospital, Sayre, Pennsylvania, USA.
A splenic inflammatory pseudotumour (IPT) is a rare condition in which inflammatory cells and non-cancerous specialised cells known as myofibroblasts abnormally replicate in the spleen. Patients with IPT may experience symptoms like abdominal pain, fever and weight loss, making it difficult to distinguish from processes like cancer. As a result, diagnosing IPT often requires imaging studies and microscopic examination.
View Article and Find Full Text PDFEpstein-Barr virus associated multicentric Castleman's disease disguised as infectious mononucleosis.
BMJ Case Rep
January 2025
Department of Rheumatology, US Department of Veterans Affairs, Fresno, California, USA.
Castleman's disease (CD), also called angiofollicular lymphoid hyperplasia, is a rare lymphoproliferative illness with two unique variants: unicentric disease and multicentric disease (MCD). The multicentric variant is rare and presents as a systemic illness with symptoms like peripheral lymphadenopathy, splenomegaly, anaemia and systemic inflammatory symptoms. Given the vague and systemic presentation, this variant can be difficult to differentiate from infection and other autoimmune diseases.
View Article and Find Full Text PDFUnusual Coats-like response in occlusive retinal periphlebitis.
BMJ Case Rep
January 2025
Ophthalmology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India.
Coats-like response refers to a condition where abnormal telangiectatic retinal vessels and aneurysms associated with subretinal exudation are seen in the setting of other ocular or systemic diseases. So far, it has been described with various ocular disorders like retinitis pigmentosa, chronic ischemic branch retinal vein obstruction and pars planitis. A man in his 30s presented with a 1-month history of diminution of vision in the left eye.
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