Background: D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive.
Case Presentation: We describe a five-month-old boy with CD40LG mutation (c.516T > A, p.
Angiomyolipoma (AML) is apparent a part of mesenchymal tumor arising from perivascular epithelioid cell origin. AML is formed of blood vessels, spindle and epithelioid cells, and mature adipocytes. Adrenal AML is very rare.
View Article and Find Full Text PDFBMC Gastroenterol
August 2020
Background: Esophageal tuberculosis (ET) is relatively rare, and the diagnosis is challenging. The aim of this study was to evaluate the clinical features of ET and highlight the role of endoscopic ultrasonography (EUS) in the diagnosis of pathologically undiagnosed ET.
Methods: We retrospectively analysed the clinical features, radiological performances, conventional endoscopic appearances, EUS features, treatment and outcomes of pathologically undiagnosed ET between January 2011 and December 2018.
World J Clin Cases
October 2019
Background: Primary malignant melanoma of the esophagus accounts for 0.1%-0.2% of all esophageal malignancies, including melanotic and amelanotic melanomas.
View Article and Find Full Text PDFBesides ultrasound and nuclear medicine techniques, computed tomography (CT) and magnetic resonance imaging (MRI) are commonly used to examine adrenal lesions in both symptomatic and asymptomatic patients. Some adrenal lesions have characteristic radiological features. If an adrenal nodule is discovered incidentally, determining whether the lesion is benign or malignant is of great importance.
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