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8,373 results
  • Cutaneous manifestations of bartonellosis. [Review]
    An Bras Dermatol 2019 Sep - Oct; 94(5):594-602Lins KA, Drummond MR, Velho PENF
  • Bartonellosis are diseases caused by any kind of Bartonella species. The infection manifests as asymptomatic bacteremia to potentially fatal disorders. Many species are pathogenic to humans, but three are responsible for most clinical symptoms: Bartonella bacilliformis, Bartonella quintana, and Bartonella henselae. Peruvian wart, caused by B. bacilliformis, may be indistinguishable from bacillary…
  • [Clinical Features of Von-Hippel-Lindau Syndrome and Its Ultrasonographic Diagnosis of Abdominal Mass]. [Journal Article]
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2019; 41(5):658-662Zhao RN, Zhang B, Jiang YX
  • Objective To analyze the clinical features of Von-Hippel-Lindau(VHL)syndrome and explore the diagnostic value of abdominal ultrasound for this disease.Methods The clinical features including age at first diagnosis,symptoms,signs,affected organs,number of operations,and diagnostic examinations of 35 patients with VHL syndrome admitted to our center from January 1994 to December 2017 were retrospec…
  • Extraocular muscle enlargement in retinoencephalofacial angiomatosis. [Journal Article]
    Orbit 2019; :1-3Kamboj A, Tooley AA, … Kazim M
  • A 22-year-old female presented for evaluation of five years of progressive left exophthalmos and intermittent blurred vision. She had previously received laser treatment for peripheral retinal neovascularization and had undergone lip reconstruction for a left-sided congenital vascular facial malformation. Magnetic resonance imaging demonstrated diffuse enlargement of the left extraocular and temp…
  • Soft tissue angiomatosis: another PIK3CA-related disorder. [Journal Article]
    Histopathology 2019Boccara O, Galmiche-Rolland L, … Fraitag S
  • CONCLUSIONS: AST can be related to either PTEN or PIK3CA mutations and may be multifocal in PHTS. AST appears to be a manifestation of PHTS that occurs in early childhood. The patient's medical history and clinical presentation should prompt the physician to perform specific genetic testing.
  • Imaging Findings of Klippel-Trenaunay Syndrome. [Review]
    J Comput Assist Tomogr 2019 Sep/Oct; 43(5):786-792Abdel Razek AAK
  • We aim to review the imaging findings of Klippel-Trenaunay syndrome. This disorder characterized clinically by a triad of capillary malformations manifesting as a port-wine stain, venous varicosities typically along the lateral aspect of the lower extremities, and bone and/or soft tissue hypertrophy. Imaging of extremities shows unilateral venous varicosities, persistent embryonic veins, anomalou…
  • Ocular Manifestations of von Hippel-Lindau Disease. [Review]
    Cureus 2019; 11(8):e5319Ruppert MD, Gavin M, … Peiris AN
  • In this review article, we aimed to analyze the available data on the ocular manifestations of von Hippel-Lindau (VHL) disease. In this disease, the VHL protein becomes inactivated by germline mutations of the VHL tumor suppressor gene on chromosome 3p25-26, resulting in an overproduction of VEGF in non-hypoxic conditions. Ocular manifestations are expected in roughly half of VHL patients. Retina…
  • Dilated and tortuous retinal vessels as a sign of Cantu syndrome. [Journal Article]
    Ophthalmic Genet 2019; 40(5):453-454Kisilevsky E, Kohly RP, Margolin EA
  • When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those seen in patients with WMS and want to highlight this as another entity that can pre…
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