Results 81 to 90 of about 8,801 (261)

La enfermedad de Von Hippel Lindau. De la clínica a la genética [PDF]

open access: yes, 2019
La enfermedad de Von Hippel-Lindau es una enfermedad genética rara, de herencia autosómica dominante, producida por mutaciones en el gen VHL localizado en el cromosoma 3p25.
Fidalgo de la Rosa, Marina
core  

Is Bartonella sp. infection relevant in hematological malignancies in HIV-negative patients? A literature review

open access: yesLeukemia Research Reports
Bartonelloses are diseases caused by Bartonella sp., transmitted to humans by blood sucking arthropod vectors. Clinical presentations include bacillary angiomatosis, cat scratch disease and atypical forms.
Elisa Nunes Secamilli   +5 more
doaj   +1 more source

Isolation and characterization of Bartonella quintana from parotid gland of an immunocompetent man. [PDF]

open access: yes, 2009
We describe a case of the isolation of Bartonella quintana from the parotid gland of an apparently healthy man. Pathological examination showed intraparotid granulomatous abscessual lymphadenitis.
INCANDELA, Cinzia   +4 more
core  

Lymphangiomatosis of the arm with massive osteolysis. A case report. [PDF]

open access: yes, 1987
A case of massive osteolysis of the arm is described where the typical bony lesions were associated with soft tissue ...
Ceciliani L., Mora R, Pazzaglia UE
core   +1 more source

Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities

open access: yesDevelopmental Medicine &Child Neurology, Volume 67, Issue 2, Page 186-194, February 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16100 This original article is commented by Wolf et al. on pages 143–144 of this issue. Abstract Aim To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland.
Jaakko H. Oikarainen   +9 more
wiley   +1 more source

Análisis del síndrome de Sturge-Weber: estudio retrospectivo de múltiples variables asociadas

open access: yesNeurología, 2017
Resumen: Introducción: El síndrome de Sturge-Weber es un trastorno vascular congénito caracterizado por una malformación facial capilar (mancha en vino de Oporto) asociada a malformaciones venosas y capilares en el cerebro y en el ojo.
A.I. Maraña Pérez   +6 more
doaj   +1 more source

Case Report: Intramedullary Cervical Spinal Cord Hemangioblastoma with an Evaluation of von Hippel-Lindau Disease [PDF]

open access: yes, 2008
History of Present Illness MO is a 49 year old male with a history of multiple sclerosis who presents with a one year history of progressive numbness in his shoulders bilateral and upper back.
Falowski MD, Steven   +3 more
core   +1 more source

Kaposi Sarcoma Presenting as Upper Gastrointestinal Bleeding in a Patient With Acquired Immune Deficiency Syndrome

open access: yesCase Reports in Gastrointestinal Medicine, Volume 2025, Issue 1, 2025.
Kaposi sarcoma (KS), an angioproliferative neoplasm driven by human herpesvirus 8, predominantly affects patients with acquired immune deficiency syndrome (AIDS) or those on immunosuppressive therapy. Gastrointestinal involvement in KS is underreported, with limited literature highlighting its clinical significance and morphological diversity on ...
Karthik Gnanapandithan   +4 more
wiley   +1 more source

Congenital and Disseminated Pyogenic Granuloma-like Vascular Lesions [PDF]

open access: yes, 2015
International audienceWe report an exceptional case of multiple cutaneous and visceral neonatal pyogenic granuloma (PG) initially suggestive of a diffuse neonatal haemangiomatosis.
André, Nicolas   +12 more
core   +3 more sources

Radial Nerve Palsy as an Iatrogenic Complication of Shoulder Replacement Surgery With Significant Bone Loss of the Humerus Resembling Gorham–Stout Disease: Case Report and Review of the Literature

open access: yesCase Reports in Neurological Medicine, Volume 2025, Issue 1, 2025.
Gorham–Stout disease (GSD), also known as vanishing bone disease or massive osteolysis, is a rare entity characterized by destruction of the osseous matrix and proliferation of vascular structures resulting in bone resorption. While neurological complications such as cerebrospinal rhinorrhea secondary to cranial involvement and paraplegia from spinal ...
Lisa B. E. Shields   +4 more
wiley   +1 more source

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