LitCoin-sentences  

PubMed:15033202 JSONTXT 25 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
T1 0-90 Sentence denotes Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly.
T2 91-354 Sentence denotes The Nijmegen breakage syndrome is a rare autosomal recessive chromosomal instability disorder characterized by early growth retardation, congenital microcephaly, immunodeficiency, borderline mental development, and a high tendency to lymphoreticular malignancies.
T3 355-515 Sentence denotes Most Nijmegen breakage syndrome patients are of Slavonic origin, and all of them known so far carry a founder homozygous 5 nucleotide deletion in the NBS1 gene.
T4 516-638 Sentence denotes Microcephaly was present in 100% of Nijmegen breakage syndrome patients in a recent large international cooperative study.
T5 639-738 Sentence denotes The frequency of Nijmegen breakage syndrome among children with primary microcephaly was not known.
T6 739-834 Sentence denotes Early correct diagnosis of the syndrome is crucial for appropriate preventive care and therapy.
T7 835-968 Sentence denotes We tested 67 Czech patients of different ages with simple microcephaly for the presence of the most common mutation in the NBS1 gene.
T8 969-1074 Sentence denotes Three new Nijmegen breakage syndrome cases were detected in this cohort, representing 4.5% of the cohort.
T9 1075-1190 Sentence denotes All these newly diagnosed Nijmegen breakage syndrome patients were younger than 10 months at the time of diagnosis.
T10 1191-1235 Sentence denotes They were all born within a 2.5-year period.
T11 1236-1380 Sentence denotes Twenty-three of the 67 children in the cohort were born within this 2.5-year period, representing a 13% incidence of Nijmegen breakage syndrome.
T12 1381-1476 Sentence denotes Frequency of Nijmegen breakage syndrome heterozygotes among infants in the Czech Republic is 1:
T13 1477-1638 Sentence denotes 130-158 and the birth rate is 90,000 per year, therefore in the time span of 2.5 years, three new Nijmegen breakage syndrome homozygotes are expected to be born.
T14 1639-1799 Sentence denotes Therefore we assume that by DNA testing of Czech primary microcephalic children it is possible to detect all Nijmegen breakage syndrome patients to be expected.
T15 1800-1916 Sentence denotes The age at correct diagnosis was lowered from 7.1 years at the time before DNA testing, to well under 1 year of age.
T16 1917-2075 Sentence denotes All new Nijmegen breakage syndrome patients could receive appropriate preventive care, which should significantly improve their life expectancy and prognosis.