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T1 Age 33 44 45-year old T2 Sex 45 50 woman T3 Biological_structure 79 98 university hospital T4 Date 99 115 at the age of 35 E1 Date:T4 T5 History 154 163 pregnancy T6 History 173 192 congenital deafness T7 History 260 268 epilepsy T8 Clinical_event 62 71 presented E2 Clinical_event:T8 R1 MODIFY Arg1:T3 Arg2:E2 T9 Sign_symptom 212 219 syncope E3 Sign_symptom:T9 T10 Date 227 235 age of 3 E4 Date:T10 T11 Medication 291 316 anti-epilepsy medications E5 Medication:T11 T12 Sign_symptom 377 384 syncope E6 Sign_symptom:T12 T13 Detailed_description 356 373 several instances R2 MODIFY Arg1:T13 Arg2:E6 T14 Date 393 402 age of 13 E7 Date:T14 T15 Sign_symptom 414 421 syncope E8 Sign_symptom:T15 T16 Disease_disorder 457 461 JLNS E9 Disease_disorder:T16 #1 AnnotatorNotes E9 Jervell and Lange-Nielsen syndrome T17 Sign_symptom 501 522 prolonged QT interval E10 Sign_symptom:T17 T18 Sign_symptom 528 535 syncope E11 Sign_symptom:T18 T19 Date 689 698 age of 29 E12 Date:T19 T20 Sign_symptom 658 681 subarachnoid hemorrhage E13 Sign_symptom:T20 T21 Clinical_event 715 724 presented E14 Clinical_event:T21 T22 Nonbiological_location 732 740 hospital R3 MODIFY Arg1:T22 Arg2:E14 T23 Medication 761 774 beta-blockers E15 Medication:T23 A1 POLARITY E15 NEG T24 History 800 806 asthma T25 Medication 823 833 mexiletine E16 Medication:T25 T26 Medication 849 858 phenytoin E17 Medication:T26 T27 Sign_symptom 556 574 arrhythmic episode E18 Sign_symptom:T27 A2 POLARITY E18 UNCERTAIN T28 Disease_disorder 616 624 epilepsy E19 Disease_disorder:T28 A3 POLARITY E19 UNCERTAIN T29 Sign_symptom 597 608 tachycardia E20 Sign_symptom:T29 T30 Diagnostic_procedure 864 867 QTc E21 Diagnostic_procedure:T30 T31 Lab_value 884 893 prolonged T32 Lab_value 895 901 584 ms R4 MODIFY Arg1:T31 Arg2:E21 R5 MODIFY Arg1:T32 Arg2:E21 T33 Clinical_event 906 918 presentation E22 Clinical_event:T33 T34 Medication 941 949 atenolol E23 Medication:T34 T35 Clinical_event 969 978 delivered E24 Clinical_event:T35 T36 Therapeutic_procedure 1013 1032 Caesarean operation E25 Therapeutic_procedure:T36 T37 Nonbiological_location 1040 1048 hospital R6 MODIFY Arg1:E25 Arg2:E24 R7 MODIFY Arg1:T37 Arg2:E24 T38 Date 1056 1065 age of 35 E26 Date:T38 R8 MODIFY Arg1:E26 Arg2:E24 T39 Date 1067 1072 At 37 E27 Date:T39 T40 Subject 983 987 baby R9 MODIFY Arg1:T40 Arg2:E24 T41 Clinical_event 1078 1087 delivered E28 Clinical_event:T41 T42 Subject 1092 1103 second baby R10 MODIFY Arg1:T42 Arg2:E28 T43 Therapeutic_procedure 1129 1148 Caesarean operation E29 Therapeutic_procedure:T43 T44 Nonbiological_location 1156 1164 hospital R11 MODIFY Arg1:T44 Arg2:E28 R12 MODIFY Arg1:E27 Arg2:E28 R13 MODIFY Arg1:E29 Arg2:E28 T45 Medication 1192 1205 beta-blockers E30 Medication:T45 T46 Diagnostic_procedure 1211 1214 QTc E31 Diagnostic_procedure:T46 T47 Lab_value 1224 1233 prolonged T48 Lab_value 1235 1243 600 msec R14 MODIFY Arg1:T47 Arg2:E31 R15 MODIFY Arg1:T48 Arg2:E31 T49 Lab_value 1262 1270 780 msec R16 MODIFY Arg1:T49 Arg2:E31 T50 Date 1251 1260 age of 37 E32 Date:T50 T51 Date 1251 1257;1274 1276 age of 44 E33 Date:T51 R17 MODIFY Arg1:E32 Arg2:T48 R18 MODIFY Arg1:E33 Arg2:T49 T52 Sign_symptom 1458 1465 syncope E34 Sign_symptom:T52 T53 Detailed_description 1447 1457 occasional R19 MODIFY Arg1:T53 Arg2:E34 T54 Therapeutic_procedure 1491 1529 implantable cardioverter defibrillator E35 Therapeutic_procedure:T54 T55 Therapeutic_procedure 1531 1534 ICD E36 Therapeutic_procedure:T55 R20 IDENTICAL Arg1:E36 Arg2:E35 T56 Date 1549 1564 38 years of age E37 Date:T56 T57 Sign_symptom 1592 1617 stable clinical condition E38 Sign_symptom:T57 T58 Disease_disorder 1656 1660 JLNS E39 Disease_disorder:T58 A4 POLARITY E39 UNCERTAIN A5 POLARITY E9 UNCERTAIN T59 Subject 1665 1677 both infants T60 Family_history 1684 1744 measured QTc of 500 ms or greater within 1 month after birth R21 MODIFY Arg1:T60 Arg2:T59 T61 Family_history 1803 1836 stable condition at ages 10 and 8 R22 MODIFY Arg1:T61 Arg2:T59 T62 Family_history 1746 1759 beta blockers R23 MODIFY Arg1:T62 Arg2:T59 #2 AnnotatorNotes T59 Note that most material in this sentence is about the children, not the patient T63 Subject 1868 1871 son T64 Family_history 1857 1860 QTc T65 Family_history 1905 1933 500 ms one month after birth R24 MODIFY Arg1:T65 Arg2:T64 T66 Subject 1956 1962 sister T67 Family_history 1945 1948 QTc T68 Family_history 1975 1990 530 ms at birth R25 MODIFY Arg1:T68 Arg2:T67 T69 History 1992 2059 The father (I-1) and mother (I-2) of the proband were first cousins #3 AnnotatorNotes T69 Medically relevant for the patient, not her parents T70 Subject 2149 2173 immediate family members T71 Family_history 2070 2141 no history of sudden unexplained syncope or death of children or adults R26 MODIFY Arg1:T71 Arg2:T70 T72 Nonbiological_location 2311 2336 Chiba University Hospital T73 Diagnostic_procedure 2218 2237 Clinical evaluation E40 Diagnostic_procedure:T73 T74 Clinical_event 2242 2254 consultation E41 Clinical_event:T74 R27 MODIFY Arg1:T72 Arg2:E41 R28 MODIFY Arg1:T72 Arg2:E40 T75 Diagnostic_procedure 2425 2428 ECG E42 Diagnostic_procedure:T75 T76 Diagnostic_procedure 2398 2419 physical examinations E43 Diagnostic_procedure:T76 T77 Diagnostic_procedure 2430 2443 Blood samples E44 Diagnostic_procedure:T77 T78 Clinical_event 2509 2527 genetic counseling E45 Clinical_event:T78 T79 Diagnostic_procedure 2599 2610 Genomic DNA E46 Diagnostic_procedure:T79 T80 Biological_structure 2629 2657 peripheral blood lymphocytes R29 MODIFY Arg1:T80 Arg2:E46 T81 Diagnostic_procedure 2915 2940 polymerase chain reaction E47 Diagnostic_procedure:T81 T82 Diagnostic_procedure 2942 2945 PCR E48 Diagnostic_procedure:T82 R30 IDENTICAL Arg1:E48 Arg2:E47 T83 Detailed_description 2789 2794 KCNQ1 R31 MODIFY Arg1:T83 Arg2:E47 T84 Detailed_description 2827 2846 LQT causative genes R32 MODIFY Arg1:T84 Arg2:E47 T85 Detailed_description 2848 2895 KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, SCN4B, KCNJ5 R33 IDENTICAL Arg1:T85 Arg2:T84 T86 Detailed_description 3011 3035 30–100 ng of genomic DNA T87 Coreference 3053 3070 PCR amplification E49 Coreference:T87 R34 IDENTICAL Arg1:E49 Arg2:E47 R35 MODIFY Arg1:T86 Arg2:E49 T88 Detailed_description 3076 3090 DNA polymerase T89 Detailed_description 3092 3153 PrimeSTAR GXL DNA Polymerase; Takara Bio Inc., Kusatsu, Japan R36 MODIFY Arg1:T88 Arg2:E49 R37 MODIFY Arg1:T89 Arg2:E49 T90 Detailed_description 3159 3170 primer sets R38 MODIFY Arg1:T90 Arg2:E49 T91 Diagnostic_procedure 3217 3227 sequencing E50 Diagnostic_procedure:T91 T92 Detailed_description 3204 3216 conventional T93 Detailed_description 3233 3250 Sanger sequencers R39 MODIFY Arg1:T92 Arg2:E50 R40 MODIFY Arg1:T93 Arg2:E50 T94 Detailed_description 3176 3185 amplicons R41 MODIFY Arg1:T94 Arg2:E50 T95 Detailed_description 3252 3338 Applied Biosystems 3730/3130 DNA analyzers; Thermo Fisher Scientific, Waltham, MA, USA R42 MODIFY Arg1:T95 Arg2:T93 T96 Detailed_description 3364 3409 processed with Gene Codes Sequencher Software T97 Detailed_description 3411 3426 Takara Bio Inc. R43 MODIFY Arg1:T96 Arg2:E50 R44 MODIFY Arg1:T97 Arg2:T96 T98 Detailed_description 3432 3467 mapped to the human genome sequence R45 MODIFY Arg1:T98 Arg2:E50 T99 Detailed_description 3469 3486 build GRCh37/hg19 R46 MODIFY Arg1:T99 Arg2:T98 T100 Diagnostic_procedure 3489 3505 Genetic analysis E51 Diagnostic_procedure:T100 T101 Detailed_description 3585 3595 KCNQ1 gene T102 Detailed_description 3668 3687 LQT causative genes R47 MODIFY Arg1:T101 Arg2:E51 R48 MODIFY Arg1:T102 Arg2:E51 T103 Detailed_description 3689 3736 KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, SCN4B, KCNJ5 R49 IDENTICAL Arg1:T103 Arg2:T102 T104 Sign_symptom 3759 3786 homozygous nonsense variant E52 Sign_symptom:T104 T105 Sign_symptom 3882 3907 homozygous common variant E53 Sign_symptom:T105 T106 Detailed_description 3788 3810 NM_000218.2:c.115G > T R50 MODIFY Arg1:T106 Arg2:E52 T107 Detailed_description 3909 3932 NM_000218.2:c.1343C > G R51 MODIFY Arg1:T107 Arg2:E53 T108 Diagnostic_procedure 3978 3995 Genetic screening E54 Diagnostic_procedure:T108 T109 Subject 4003 4009 mother T110 Subject 4020 4028 children R52 MODIFY Arg1:T109 Arg2:E54 R53 MODIFY Arg1:T110 Arg2:E54 T111 Family_history 4071 4108 heterozygous for the nonsense variant R54 MODIFY Arg1:T111 Arg2:T110 R55 MODIFY Arg1:T111 Arg2:T109 T112 Subject 4122 4129 husband T113 Family_history 4171 4206 heterozygous for the common variant R56 MODIFY Arg1:T113 Arg2:T112 T114 History 4247 4298 The proband is a child from a first-cousin marriage T115 Disease_disorder 4389 4394 JLNS1 E55 Disease_disorder:T115 T116 Sign_symptom 4326 4353 homozygous nonsense variant E56 Sign_symptom:T116 R57 CAUSE Arg1:E56 Arg2:E55 T117 Sign_symptom 4425 4473 pathogenic variants in other LQT causative genes E57 Sign_symptom:T117 A6 POLARITY E57 NEG * OVERLAP E2 E1 R58 AFTER Arg1:E1 Arg2:E3 * OVERLAP E3 E4 E5 R59 BEFORE Arg1:E5 Arg2:E6 R60 BEFORE Arg1:E6 Arg2:E7 * OVERLAP E7 E8 E9 E10 E11 E18 E20 E19 R61 BEFORE Arg1:E19 Arg2:E13 * OVERLAP E13 E12 R62 BEFORE Arg1:E12 Arg2:E14 * OVERLAP E14 E15 E16 E17 E21 E22 E23 R63 BEFORE Arg1:E23 Arg2:E24 * OVERLAP E24 E26 R64 BEFORE Arg1:E26 Arg2:E27 * OVERLAP E27 E28 R65 BEFORE Arg1:E28 Arg2:E30 * OVERLAP E30 E31 R66 BEFORE Arg1:E31 Arg2:E34 R67 BEFORE Arg1:E34 Arg2:E35 * OVERLAP E35 E37 R68 BEFORE Arg1:E37 Arg2:E38 R69 BEFORE Arg1:E38 Arg2:E39 R70 BEFORE Arg1:E39 Arg2:E40 * OVERLAP E40 E43 E42 R71 BEFORE Arg1:E42 Arg2:E44 R72 AFTER Arg1:E44 Arg2:E45 R73 BEFORE Arg1:E45 Arg2:E46 * OVERLAP E46 E47 E50 E51 E52 E53 R74 BEFORE Arg1:E53 Arg2:E54 R75 BEFORE Arg1:E54 Arg2:E56 * OVERLAP E56 E57