Id |
Subject |
Object |
Predicate |
Lexical cue |
TextSentencer_T1 |
0-88 |
Sentence |
denotes |
A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. |
T1 |
0-88 |
Sentence |
denotes |
A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. |
TextSentencer_T2 |
89-206 |
Sentence |
denotes |
Clinical, laboratory and genetic defect of a Taiwanese family with type 2B von Willebrand disease (VWD) were studied. |
T2 |
89-206 |
Sentence |
denotes |
Clinical, laboratory and genetic defect of a Taiwanese family with type 2B von Willebrand disease (VWD) were studied. |
TextSentencer_T3 |
207-320 |
Sentence |
denotes |
The proband was a 55-year-old woman who gave birth to two daughters and one son aged 30, 29 and 27, respectively. |
T3 |
207-320 |
Sentence |
denotes |
The proband was a 55-year-old woman who gave birth to two daughters and one son aged 30, 29 and 27, respectively. |
TextSentencer_T4 |
321-384 |
Sentence |
denotes |
All had abnormal mucocutaneous bleedings since their childhood. |
T4 |
321-384 |
Sentence |
denotes |
All had abnormal mucocutaneous bleedings since their childhood. |
TextSentencer_T5 |
385-705 |
Sentence |
denotes |
In proband, PT, PTT and platelet count were normal; template bleeding time was 14 min; VIII:C was 51%, von Willebrand factor antigen (VWF:Ag), 42% and von Willerand factor ristocetin-cofactor (VWF:RCo, 15%); ristocetin-induced platelet aggregation (RIPA) at 0.3 and 0.6 mg/ml of ristocetin was 16% and 68%, respectively. |
T5 |
385-705 |
Sentence |
denotes |
In proband, PT, PTT and platelet count were normal; template bleeding time was 14 min; VIII:C was 51%, von Willebrand factor antigen (VWF:Ag), 42% and von Willerand factor ristocetin-cofactor (VWF:RCo, 15%); ristocetin-induced platelet aggregation (RIPA) at 0.3 and 0.6 mg/ml of ristocetin was 16% and 68%, respectively. |
TextSentencer_T6 |
706-816 |
Sentence |
denotes |
The enhanced response to ristocetin was identified to be in plasma, not in platelet itself, by mixing studies. |
T6 |
706-816 |
Sentence |
denotes |
The enhanced response to ristocetin was identified to be in plasma, not in platelet itself, by mixing studies. |
TextSentencer_T7 |
817-952 |
Sentence |
denotes |
Analysis of von Willebrand factor (VWF) multimer of plasma but not of platelets showed absence of high-molecular weight (HMW) multimer. |
T7 |
817-952 |
Sentence |
denotes |
Analysis of von Willebrand factor (VWF) multimer of plasma but not of platelets showed absence of high-molecular weight (HMW) multimer. |
TextSentencer_T8 |
953-1004 |
Sentence |
denotes |
All three children had similar laboratory findings. |
T8 |
953-1004 |
Sentence |
denotes |
All three children had similar laboratory findings. |
TextSentencer_T9 |
1005-1091 |
Sentence |
denotes |
Exon 28 of VWF gene was amplified using polymerase chain reaction (PCR) and sequenced. |
T9 |
1005-1091 |
Sentence |
denotes |
Exon 28 of VWF gene was amplified using polymerase chain reaction (PCR) and sequenced. |
TextSentencer_T10 |
1092-1246 |
Sentence |
denotes |
The proband and three children were all found to be heterozygous for C to T transition at nucleotide 3916 resulting in Arg 1306 Trp (R1306W) substitution. |
T10 |
1092-1246 |
Sentence |
denotes |
The proband and three children were all found to be heterozygous for C to T transition at nucleotide 3916 resulting in Arg 1306 Trp (R1306W) substitution. |
TextSentencer_T11 |
1247-1437 |
Sentence |
denotes |
This mutation in the glycoprotein Ib (GPIb)-binding site has been found to increase the affinity of plasma VWF for platelets, and thus cause loss of HMW multimers and often thrombocytopenia. |
T11 |
1247-1437 |
Sentence |
denotes |
This mutation in the glycoprotein Ib (GPIb)-binding site has been found to increase the affinity of plasma VWF for platelets, and thus cause loss of HMW multimers and often thrombocytopenia. |
TextSentencer_T12 |
1438-1564 |
Sentence |
denotes |
In conclusion, a first report of type 2B VWD in a Taiwanese Chinese family who show R1306W mutation in VWF gene was described. |
T12 |
1438-1564 |
Sentence |
denotes |
In conclusion, a first report of type 2B VWD in a Taiwanese Chinese family who show R1306W mutation in VWF gene was described. |