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Prenatal Detection of Silver-Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach.
Medicina (Kaunas)
January 2025
Department of Obstetrics and Gynecology, Alessandrescu-Rusescu National Institute for Mother and Child Health, 20382 Bucharest, Romania.
Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by prenatal and postnatal growth restriction, distinctive facial features, and body asymmetry. Early suspicion during the first trimester remains challenging but crucial for optimizing clinical outcomes. This study aims to highlight a diagnostic approach to the early suspicion of SRS.
View Article and Find Full Text PDFMinimally Invasive Surgical Approach in Granulomatosis with Polyangiitis Complicated with Intramural Descending Aorta Hematoma Followed by Aortic Wall Rupture.
Diagnostics (Basel)
January 2025
Department of Internal Medicine and Gastroenterology, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
: Granulomatosis with polyangiitis (GPA) represents a rare autoimmune disease with granulomatous inflammation, tissue necrosis, and systemic vasculitis of the small and medium blood vessels. Although the clinical elements vary, aortic involvement is exceptional and it represents a challenge that requires a rapid intervention with the potential of displaying a fulminant evolution. : We report a 64-year-old male with an 18-year history of GPA who presented atypical low back pain.
View Article and Find Full Text PDFA Rare Case of Elbow Synovial Cyst with Radial Nerve Compression.
Diagnostics (Basel)
January 2025
Department of Physical Medicine and Rehabilitation, Wan Fang Hospital, Taipei Medical University, Taipei 116, Taiwan.
Elbow synovial cysts are rare and can mimic more frequently encountered disorders such as lateral epicondylitis, presenting diagnostic challenges. This report describes a woman in her mid-40s with persistent pain and weakness in her right forearm due to a synovial cyst compressing the radial nerve at the Arcade of Frohse. Despite initial suspicions of lateral epicondylitis, deeper investigation using sonography confirmed the presence of a compressive synovial cyst.
View Article and Find Full Text PDFAn atypical presentation of autoimmune hepatitis with delayed menarche in a Nigerian adolescent: a case report.
J Med Case Rep
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Gastroenterology Unit, Enugu State University of Science and Technology, Parklane, Enugu, Nigeria.
Background: Autoimmune hepatitis is a chronic liver disease marked by immune-mediated inflammation, necrosis, and the potential to progress to cirrhosis if not treated. This case report presents a rare and atypical presentation of autoimmune hepatitis in a Nigerian adolescent girl, highlighting diagnostic challenges in resource-limited settings. The case is unique owing to the absence of jaundice, a common symptom of liver dysfunction, and features such as delayed menarche and bilateral leg swelling.
View Article and Find Full Text PDFThe role of IgE sensitisation in acute FPIES: A systematic review and meta-analysis.
J Allergy Clin Immunol Pract
January 2025
Section of Inflammation, Repair and Development, National Heart and Lung Institute. Imperial College London, UK.
Background: Evidence on the role of IgE sensitisation in acute Food Protein-Induced Enterocolitis Syndrome ('atypical FPIES') is limited. Initial reports claimed association with persistent disease, however recent studies have not replicated this.
Objective: To systematically review the relationship between sensitisation to the culprit food(s) in acute FPIES and the outcome of follow-up oral food challenges.
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