Respect to History: Von Presser Syndrome

Unusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature

  We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...

Frequency Assessment of the H817Q (2451T→A) Variant of von Willebrand Gene in Individuals without Hemorrhagic Signs

Abstract Background and Aims:‎ Von Willebrand disease is a bleeding disorder caused by quantitative or functional defects in von Willebrand factor. The disease is found in up to 1 percent of the population. The most common symptom is mucocutaneous bleeding. Recently, studies conducted on healthy people showed that the H817Q mutation that previously known to cause von Willebrand...

Quantitative Immunophemotyping of Platelet Surface Glycoproteins among Iranian Patients with Bernard-Soulier Syndrome

Background: Bernard-Soulier syndrome is a rare inherited bleeding disease caused by quantitative or qualitative defect of GPIb/IX/V, a platelet complex that binds the Von Willebrand factor. The expression of GPIb-IX-V complex can be evaluated by flow cytometry and confirmed by the absence of ristocetin-induced platelet aggregation in platelet-rich plasma. The main aim of the present study was t...

گزارش مورد: دیسپلازی کندرواکتودرمال یا سندرم الیس وان کرولد (Von Creveld)

One patient with Ellis Von Creveld syndrome contains: dwarfism, congenital heart disease, ectodermal dysplasia, polyductyly, an abnormally wide labial renum and maxillary molars with single root.

Detection of Hhv-8 in Autopsy Samples from Aids Patients