Linked Life Data

8034241

Source:http://linkedlifedata.com/resource/pubmed/id/8034241

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
1994-8-18
pubmed:abstractText
The method of diagnosis in 122 patients with familial dysautonomia (FD) was reviewed. In all cases the diagnosis was based on the clinical history, physical examination and results of the histamine test (concentrations of 1:1,000 and 1:10,000). In 8 patients the diagnosis was also supported by a meiotic response to pilocarpine (0.0625 mg/dl). 69 (56%) were diagnosed in the first year of life (19 of them relatives of known FD patients), 16 (13%) in the second year, 31 (25%) from 25 months to 10 years, 3 (2%) from 10.1-20 years, and 3 from 20.1-44 years. At diagnosis the mean age was 2.9 years (SD 5.84) and the median age 11 months. In 17 diagnosis was delayed by an average of 18.5 months (SD 16.9) from the time FD was initially suspected, mainly because of false interpretation of the histamine test. Early correct diagnosis is essential to prevent unnecessary morbidity and mortality from FD.
pubmed:language
heb
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0017-7768
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
126
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
565-7, 628
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
[Diagnosis and misdiagnosis in familial dysautonomia].
pubmed:affiliation
Pediatric Dept., Hadassah-University Hospital, Mount Scopus, Jerusalem.
pubmed:publicationType
Journal Article, English Abstract