10 resultados
Intracranial arteriovenous malformations (AVM) are a rare feature of Bannayan-Riley-Ruvalcaba syndrome (BRRS). Palencia et al reported a case of intracranial arteriovenous malformation in a child with BRRS in a Spanish journal in 1986. However, the occurrence of dural AVM in a patient with BRRS has
Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia. PTEN is a tumour suppressor and
MAPK/ERK kinase (MEK) 1/2 are central signaling proteins that serve as specificity determinants of the MAPK/ERK cascade. More than twenty activating mutations have been reported for MEK1/2, and many of them are known to cause diseases such as cancers, arteriovenous malformation and RASopathies.
Background: Cowden's syndrome is an autosomal dominant disease with variable penetrance, involving the tumor suppressor phosphatase and tension homolog gene, located on chromosome 10q22-23, responsible for cell proliferation, migration,
If viable fibroblasts are used as an active ingredient of an embolic material, it is expected that proliferation and extracellular matrix production of fibroblasts incorporated at a vascular lesion will help restore tissues due to endovascular scar formation, resulting in progressive and permanent
Cowden syndrome is characterized by multiple hamartomas and accompanied by a germline mutation of the phosphatase and tensin homolog gene. Cowden syndrome has been described to be associated with vascular anomalies such as arteriovenous malformation and developmental venous anomalies An asymptomatic 70-year-old Hispanic woman with type 2 diabetes was found in 2004 to have an AST of 132 U/L, ALT 146 U/L, alkaline phosphatase 1107 U/L, total serum bilirubin 3.5 mg/dL, and albumin 2.9 g/dL. Viral hepatitis testing was negative. Serum IgG, IgA, and IgM were all elevated,
BACKGROUND
Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease, is an autosomal dominant disorder characterized by angiodysplastic lesions (telangiectases and arteriovenous malformations) that affect many organs. Liver involvement in patients with this disease has not been fully
BACKGROUND
Sinistral, or left-sided, portal hypertension (SPH) is a rare entity, with multiple potential causes. Gastrointestinal variceal bleeding and hypersplenism are its' major clinical manifestations. The main aim of the present study is to summarize the clinical features of patients with
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high.