| pubmed-article:20585202 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20585202 | lifeskim:mentions | umls-concept:C0521425 | lld:lifeskim |
| pubmed-article:20585202 | lifeskim:mentions | umls-concept:C0019562 | lld:lifeskim |
| pubmed-article:20585202 | lifeskim:mentions | umls-concept:C0220908 | lld:lifeskim |
| pubmed-article:20585202 | lifeskim:mentions | umls-concept:C0805586 | lld:lifeskim |
| pubmed-article:20585202 | lifeskim:mentions | umls-concept:C1521725 | lld:lifeskim |
| pubmed-article:20585202 | lifeskim:mentions | umls-concept:C0009563 | lld:lifeskim |
| pubmed-article:20585202 | lifeskim:mentions | umls-concept:C0814225 | lld:lifeskim |
| pubmed-article:20585202 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:20585202 | pubmed:dateCreated | 2011-5-19 | lld:pubmed |
| pubmed-article:20585202 | pubmed:abstractText | Fifteen children and adolescents (4 male) with a median age of 5.4 yr (range 1.2 -13.6 yr) were entered into a screening protocol to identify lesions of von Hippel-Lindau (VHL) disease. Fourteen had an affected first-degree relative and one had a previous VHL lesion. Screening during the period of 2000 to 2008 followed published guidelines and consisted of measurement of urinary catecholamines, adrenal and renal imaging and ophthalmological and central nervous system examinations and imaging. Screening identified 8 VHL lesions in 6 asymptomatic patients with confirmed genetic mutations. Five patients had elevated urinary noradrenaline excretion and in each case the presence of a pheochromocytoma was identified on adrenal magnetic resonance imagin scan. In one patient a left-sided tumor was identified 1 yr after a right-sided tumor had been removed. In a sixth patient a retinal capillary hemangioma and a cerebellar hemangioblastoma were identified. Patient compliance with the screening protocol was variable reflecting its time-intensive nature. A formal screening programme for this at-risk population of pediatric patients, despite being intensive, can identify VHL lesions during a pre-morbid phase and may thus have a beneficial impact on prognosis in this serious disorder. | lld:pubmed |
| pubmed-article:20585202 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20585202 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20585202 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20585202 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20585202 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20585202 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:20585202 | pubmed:issn | 1720-8386 | lld:pubmed |
| pubmed-article:20585202 | pubmed:author | pubmed-author:PrasadRR | lld:pubmed |
| pubmed-article:20585202 | pubmed:author | pubmed-author:MartinLL | lld:pubmed |
| pubmed-article:20585202 | pubmed:author | pubmed-author:SavageM OMO | lld:pubmed |
| pubmed-article:20585202 | pubmed:author | pubmed-author:PerryL ALA | lld:pubmed |
| pubmed-article:20585202 | pubmed:author | pubmed-author:StormH KHK | lld:pubmed |
| pubmed-article:20585202 | pubmed:author | pubmed-author:JohnstonL BLB | lld:pubmed |
| pubmed-article:20585202 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20585202 | pubmed:volume | 34 | lld:pubmed |
| pubmed-article:20585202 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20585202 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20585202 | pubmed:pagination | 296-9 | lld:pubmed |
| pubmed-article:20585202 | pubmed:meshHeading | pubmed-meshheading:20585202... | lld:pubmed |
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| pubmed-article:20585202 | pubmed:meshHeading | pubmed-meshheading:20585202... | lld:pubmed |
| pubmed-article:20585202 | pubmed:year | 2011 | lld:pubmed |
| pubmed-article:20585202 | pubmed:articleTitle | Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance. | lld:pubmed |
| pubmed-article:20585202 | pubmed:affiliation | Paediatric Endocrine Unit, St Bartholomew's and Royal London Hospitals, London, UK. | lld:pubmed |
| pubmed-article:20585202 | pubmed:publicationType | Journal Article | lld:pubmed |
