--- a +++ b/processing/MACCROBAT/23242090.ann @@ -0,0 +1,367 @@ +T1 Age 3 14 18-year-old +T2 Sex 15 19 lady +T3 Clinical_event 20 29 presented +E1 Clinical_event:T3 +T4 History 35 109 history of progressive swaying while walking, worse in night since 5 years +T5 Sign_symptom 151 164 tremulousness +E2 Sign_symptom:T5 +A1 POLARITY E2 NEG +T6 Sign_symptom 58 65 swaying +E3 Sign_symptom:T6 +T7 Clinical_event 72 79 walking +E4 Clinical_event:T7 +T8 Biological_structure 168 179 upper limbs +R1 MODIFY Arg1:T8 Arg2:E2 +T9 Duration 102 109 5 years +E5 Duration:T9 +T10 Time 90 95 night +E6 Time:T10 +T11 Lab_value 81 86 worse +R3 MODIFY Arg1:E6 Arg2:T11 +R4 MODIFY Arg1:E5 Arg2:E6 +T12 Diagnostic_procedure 111 117 Speech +E7 Diagnostic_procedure:T12 +T13 History 197 231 no history of weakness or numbness +T14 Sign_symptom 211 219 weakness +E8 Sign_symptom:T14 +A2 POLARITY E8 NEG +T15 Sign_symptom 223 231 numbness +E9 Sign_symptom:T15 +A3 POLARITY E9 NEG +T16 Family_history 271 418 her elder sister had similar difficulty in walking of 7-year duration and died because of poorly controlled diabetes mellitus at an age of 20 years +T17 Duration 325 331 7-year +E10 Duration:T17 +T18 Subject 275 287 elder sister +T19 Outcome 345 349 died +E11 Outcome:T19 +T20 Disease_disorder 379 396 diabetes mellitus +E12 Disease_disorder:T20 +T21 Age 410 418 20 years +R6 MODIFY Arg1:T21 Arg2:E11 +R7 CAUSE Arg1:E12 Arg2:E11 +R8 MODIFY Arg1:T18 Arg2:E11 +T22 Family_history 420 461 No other members of the kin were affected +T23 Family_history 476 518 no history of consanguinity in the parents +T24 Diagnostic_procedure 524 542 cognitive function +E13 Diagnostic_procedure:T24 +T27 Diagnostic_procedure 562 586 Mini Mental Status Score +E14 Diagnostic_procedure:T27 +T29 Diagnostic_procedure 598 611 Visual acuity +E15 Diagnostic_procedure:T29 +T30 Diagnostic_procedure 616 634 fundus examination +E16 Diagnostic_procedure:T30 +T32 Diagnostic_procedure 652 673 extraocular movements +E17 Diagnostic_procedure:T32 +T33 Diagnostic_procedure 684 692 saccades +E18 Diagnostic_procedure:T33 +T34 Diagnostic_procedure 694 702 pursuits +E19 Diagnostic_procedure:T34 +R14 SUB_PROCEDURE Arg1:E18 Arg2:E17 +R15 SUB_PROCEDURE Arg1:E19 Arg2:E17 +T35 Disease_disorder 723 742 saccadic intrusions +E20 Disease_disorder:T35 +A4 POLARITY E20 NEG +T36 Disease_disorder 746 755 nystagmus +E21 Disease_disorder:T36 +A5 POLARITY E21 NEG +T38 Diagnostic_procedure 774 778 tone +E22 Diagnostic_procedure:T38 +T39 Diagnostic_procedure 783 788 power +E23 Diagnostic_procedure:T39 +T41 Biological_structure 804 818 all four limbs +R19 MODIFY Arg1:T41 Arg2:E23 +R20 MODIFY Arg1:T41 Arg2:E22 +T43 Sign_symptom 896 931 bilateral extensor plantar response +E25 Sign_symptom:T43 +T44 Diagnostic_procedure 933 942 Vibration +E26 Diagnostic_procedure:T44 +T45 Diagnostic_procedure 947 967 joint position sense +E27 Diagnostic_procedure:T45 +T47 Diagnostic_procedure 984 993 Romberg's +E28 Diagnostic_procedure:T47 +T49 Sign_symptom 1016 1022 swayed +E29 Sign_symptom:T49 +T50 Detailed_description 1023 1037 to either side +R24 MODIFY Arg1:T50 Arg2:E29 +T51 Activity 1044 1066 performing tandem walk +E30 Activity:T51 +T54 Diagnostic_procedure 1127 1136 Haemogram +E32 Diagnostic_procedure:T54 +T55 Diagnostic_procedure 1138 1143 renal +E33 Diagnostic_procedure:T55 +T56 Diagnostic_procedure 1145 1150 liver +E34 Diagnostic_procedure:T56 +T57 Diagnostic_procedure 1155 1177 thyroid function tests +E35 Diagnostic_procedure:T57 +T59 Diagnostic_procedure 1191 1208 Serum vitamin B12 +E36 Diagnostic_procedure:T59 +T60 Diagnostic_procedure 1213 1223 folic acid +E37 Diagnostic_procedure:T60 +T62 Diagnostic_procedure 1258 1280 Nerve conduction study +E38 Diagnostic_procedure:T62 +T63 Diagnostic_procedure 1453 1456 MRI +E39 Diagnostic_procedure:T63 +T64 Sign_symptom 1471 1478 atrophy +E40 Sign_symptom:T64 +T65 Severity 1464 1470 marked +R32 MODIFY Arg1:T65 Arg2:E40 +T66 Biological_structure 1486 1499 cervical cord +T67 Biological_structure 1515 1525 cerebellum +R34 MODIFY Arg1:T66 Arg2:E40 +T69 Diagnostic_procedure 1559 1574 genetic testing +E41 Diagnostic_procedure:T69 +T70 Diagnostic_procedure 1581 1584 PCR +E42 Diagnostic_procedure:T70 +R35 SUB_PROCEDURE Arg1:E42 Arg2:E41 +T71 Sign_symptom 1595 1618 expansion of GAA repeat +E43 Sign_symptom:T71 +T73 Diagnostic_procedure 1295 1325 sensory nerve action potential +E44 Diagnostic_procedure:T73 +T74 Diagnostic_procedure 1338 1352 distal latency +E45 Diagnostic_procedure:T74 +T75 Diagnostic_procedure 1354 1373 conduction velocity +E46 Diagnostic_procedure:T75 +T76 Diagnostic_procedure 1378 1423 amplitude of compound muscle action potential +E47 Diagnostic_procedure:T76 +T77 Diagnostic_procedure 1425 1429 CMAP +E48 Diagnostic_procedure:T77 +R36 IDENTICAL Arg1:E48 Arg2:E47 +T79 Biological_structure 1438 1451 nerves trunks +R40 MODIFY Arg1:T79 Arg2:E45 +R41 MODIFY Arg1:T79 Arg2:E46 +R42 MODIFY Arg1:T79 Arg2:E47 +T80 Detailed_description 1622 1660 both alleles (254 and 298) of FXN gene +R43 MODIFY Arg1:T80 Arg2:E43 +T81 Disease_disorder 1813 1845 Ataxia with vitamin E deficiency +E49 Disease_disorder:T81 +A6 POLARITY E49 UNCERTAIN +T82 Sign_symptom 1899 1909 titubation +E50 Sign_symptom:T82 +A7 POLARITY E50 UNCERTAIN +T83 Disease_disorder 1768 1772 FRDA +E51 Disease_disorder:T83 +T84 Sign_symptom 1914 1926 hyperkinesia +E52 Sign_symptom:T84 +A8 POLARITY E52 UNCERTAIN +T85 Disease_disorder 1847 1851 AVED +E53 Disease_disorder:T85 +R44 IDENTICAL Arg1:E53 Arg2:E49 +T86 Coreference 1946 1950 AVED +E54 Coreference:T86 +R45 IDENTICAL Arg1:E54 Arg2:E49 +T87 Family_history 1955 2024 strong family history of ataxia and diabetes mellitus in elder sister +T88 Coreference 1886 1890 FRDA +E55 Coreference:T88 +R46 IDENTICAL Arg1:E55 Arg2:E51 +T89 Coreference 2034 2038 FRDA +E56 Coreference:T89 +R47 IDENTICAL Arg1:E56 Arg2:E55 +T90 Disease_disorder 2040 2070 Ataxia with oculomotor apraxia +E57 Disease_disorder:T90 +A9 POLARITY E57 NEG +T91 Disease_disorder 2072 2075 AOA +E58 Disease_disorder:T91 +R48 IDENTICAL Arg1:E58 Arg2:E57 +T92 Sign_symptom 2128 2155 apraxia of ocular movements +E59 Sign_symptom:T92 +A10 POLARITY E59 NEG +T93 Detailed_description 2077 2090 types 1 and 2 +R49 MODIFY Arg1:T93 Arg2:E57 +T94 Sign_symptom 2157 2174 distal amyotrophy +E60 Sign_symptom:T94 +T95 Sign_symptom 2183 2217 axonal sensorimotor polyneuropathy +E61 Sign_symptom:T95 +T96 Severity 2176 2182 severe +R50 MODIFY Arg1:T96 Arg2:E61 +T97 Sign_symptom 2220 2227 atrophy +E62 Sign_symptom:T97 +A11 POLARITY E60 NEG +A12 POLARITY E61 NEG +A13 POLARITY E62 NEG +T98 Biological_structure 2231 2241 cerebellum +T99 Sign_symptom 2246 2267 involuntary movements +E63 Sign_symptom:T99 +A14 POLARITY E63 NEG +R51 MODIFY Arg1:T98 Arg2:E62 +T100 Disease_disorder 2270 2291 Ataxia telengiectesia +E64 Disease_disorder:T100 +A15 POLARITY E64 NEG +T101 Sign_symptom 2344 2366 Muco-cutaneous markers +E65 Sign_symptom:T101 +A16 POLARITY E65 NEG +T102 Sign_symptom 2383 2393 infections +E66 Sign_symptom:T102 +A17 POLARITY E66 NEG +T103 Biological_structure 2368 2382 sino-pulmonary +R52 MODIFY Arg1:T103 Arg2:E66 +T104 Sign_symptom 2395 2417 hypogammaglobulinaemia +E67 Sign_symptom:T104 +A18 POLARITY E67 NEG +T105 Sign_symptom 2422 2438 radiosensitivity +E68 Sign_symptom:T105 +A19 POLARITY E68 NEG +T106 Sign_symptom 2496 2505 neoplasms +E69 Sign_symptom:T106 +A20 POLARITY E69 NEG +T107 Disease_disorder 2661 2718 autosomal recessive spastic ataxia of Charlevoix-Saguenay +E70 Disease_disorder:T107 +A21 POLARITY E70 NEG +T108 Disease_disorder 2723 2749 Marinesco-Sjögren syndrome +E71 Disease_disorder:T108 +A22 POLARITY E71 NEG +T109 Disease_disorder 2601 2635 autosomal recessive spastic ataxia +E72 Disease_disorder:T109 +R53 CAUSE Arg1:E70 Arg2:E72 +R54 CAUSE Arg1:E71 Arg2:E72 +T110 Disease_disorder 2751 2778 Charcot-Marie-Tooth disease +E73 Disease_disorder:T110 +A23 POLARITY E73 NEG +T111 Sign_symptom 2812 2823 gait ataxia +E74 Sign_symptom:T111 +T112 Disease_disorder 2868 2871 CMT +E75 Disease_disorder:T112 +R55 IDENTICAL Arg1:E75 Arg2:E73 +T113 Sign_symptom 2935 2949 motor weakness +E76 Sign_symptom:T113 +A24 POLARITY E76 NEG +T114 Medication 3054 3063 Idebenone +E77 Medication:T114 +T115 Dosage 3089 3107 450 mg twice a day +T116 Therapeutic_procedure 3157 3170 physiotherapy +E78 Therapeutic_procedure:T116 +T117 Therapeutic_procedure 3171 3189 Frenkel's exercise +E79 Therapeutic_procedure:T117 +R56 SUB_PROCEDURE Arg1:E79 Arg2:E78 +T118 Diagnostic_procedure 3205 3218 Blood glucose +E80 Diagnostic_procedure:T118 +T119 Date 3246 3254 4 months +E81 Date:T119 +T120 Sign_symptom 2951 2968 retained reflexes +E82 Sign_symptom:T120 +T121 Sign_symptom 2970 2998 bilaterally extensor plantar +E83 Sign_symptom:T121 +T122 Sign_symptom 3003 3026 pure sensory neuropathy +E84 Sign_symptom:T122 +T123 Diagnostic_procedure 3030 3052 nerve conduction study +E85 Diagnostic_procedure:T123 +T124 Detailed_description 3116 3138 antioxidant properties +R57 MODIFY Arg1:T124 Arg2:E77 +T125 Diagnostic_procedure 3295 3310 gait difficulty +E86 Diagnostic_procedure:T125 +T126 Severity 3266 3287 no significant change +R58 MODIFY Arg1:T126 Arg2:E86 +T127 Frequency 3232 3241 regularly +R59 MODIFY Arg1:T127 Arg2:E80 +T128 Coreference 2647 2651 FRDA +E87 Coreference:T128 +R60 IDENTICAL Arg1:E87 Arg2:E89 +T129 Coreference 2839 2843 FRDA +E88 Coreference:T129 +R61 IDENTICAL Arg1:E88 Arg2:E87 +T130 Coreference 2565 2569 FRDA +E89 Coreference:T130 +T131 Coreference 2556 2560 AOAs +E90 Coreference:T131 +T132 Coreference 2325 2342 AOA types 1 and 2 +E91 Coreference:T132 +R62 IDENTICAL Arg1:E91 Arg2:E57 +R63 IDENTICAL Arg1:E90 Arg2:E91 +R64 IDENTICAL Arg1:E89 Arg2:E56 +T133 Lab_value 361 378 poorly controlled +R65 MODIFY Arg1:T133 Arg2:E12 +T134 Sign_symptom 300 321 difficulty in walking +E92 Sign_symptom:T134 +T42 Diagnostic_procedure 867 884 myotatic reflexes +E24 Diagnostic_procedure:T42 +T135 Lab_value 851 863 exaggeration +E93 Lab_value:T135 +R66 MODIFY Arg1:E93 Arg2:E24 +T52 Diagnostic_procedure 1093 1106 blood glucose +E31 Diagnostic_procedure:T52 +T136 Detailed_description 1068 1075 Fasting +T137 Detailed_description 1080 1092 postprandial +R25 MODIFY Arg1:T136 Arg2:E31 +R67 MODIFY Arg1:T137 Arg2:E31 +T53 Lab_value 1119 1125 normal +E94 Lab_value:T53 +R68 MODIFY Arg1:E94 Arg2:E31 +R69 MODIFY Arg1:T66 Arg2:E39 +R70 MODIFY Arg1:T67 Arg2:E39 +R71 MODIFY Arg1:E4 Arg2:E3 +T25 Lab_value 122 128 normal +E95 Lab_value:T25 +R9 MODIFY Arg1:E95 Arg2:E7 +R5 MODIFY Arg1:E10 Arg2:E92 +T26 Lab_value 547 553 normal +E96 Lab_value:T26 +R10 MODIFY Arg1:E96 Arg2:E13 +T28 Lab_value 591 596 30/30 +E97 Lab_value:T28 +R11 MODIFY Arg1:E97 Arg2:E14 +T31 Lab_value 640 646 normal +E98 Lab_value:T31 +R12 MODIFY Arg1:E98 Arg2:E16 +R13 MODIFY Arg1:E98 Arg2:E15 +T37 Lab_value 708 714 normal +E99 Lab_value:T37 +R16 MODIFY Arg1:E99 Arg2:E17 +T40 Lab_value 794 800 normal +E100 Lab_value:T40 +R17 MODIFY Arg1:E100 Arg2:E23 +R18 MODIFY Arg1:E100 Arg2:E22 +T46 Lab_value 973 979 intact +E101 Lab_value:T46 +R21 MODIFY Arg1:E101 Arg2:E27 +R22 MODIFY Arg1:E101 Arg2:E26 +T48 Lab_value 998 1006 positive +E102 Lab_value:T48 +R23 MODIFY Arg1:E102 Arg2:E28 +T58 Lab_value 1183 1189 normal +E103 Lab_value:T58 +R26 MODIFY Arg1:E103 Arg2:E35 +R27 MODIFY Arg1:E103 Arg2:E34 +R28 MODIFY Arg1:E103 Arg2:E33 +R29 MODIFY Arg1:E103 Arg2:E32 +T61 Lab_value 1243 1249 normal +E104 Lab_value:T61 +R30 MODIFY Arg1:E104 Arg2:E37 +R31 MODIFY Arg1:E104 Arg2:E36 +T72 Lab_value 1288 1294 absent +E105 Lab_value:T72 +R72 MODIFY Arg1:E105 Arg2:E44 +T78 Lab_value 1331 1337 normal +E106 Lab_value:T78 +R37 MODIFY Arg1:E106 Arg2:E45 +R38 MODIFY Arg1:E106 Arg2:E46 +R39 MODIFY Arg1:E106 Arg2:E47 +T68 Lab_value 1536 1542 normal +E107 Lab_value:T68 +R33 MODIFY Arg1:E107 Arg2:T67 +T138 Disease_disorder 1685 1712 autosomal recessive ataxias +E108 Disease_disorder:T138 +T139 Coreference 2522 2543 ataxia telengiectasia +E109 Coreference:T139 +R73 IDENTICAL Arg1:E109 Arg2:E64 +R74 CAUSE Arg1:E87 Arg2:E72 +T140 Disease_disorder 2793 2807 polyneuropathy +E110 Disease_disorder:T140 +T141 Detailed_description 2783 2792 inherited +R75 MODIFY Arg1:T141 Arg2:E110 +R76 IDENTICAL Arg1:E110 Arg2:E73 +R77 AFTER Arg1:E1 Arg2:E3 +R2 MODIFY Arg1:T11 Arg2:E3 +R78 BEFORE Arg1:E3 Arg2:E7 +* OVERLAP E7 E2 +R79 AFTER Arg1:E2 Arg2:E8 +* OVERLAP E8 E9 E92 E11 +R80 MODIFY Arg1:T18 Arg2:E92 +R81 BEFORE Arg1:E11 Arg2:E13 +* OVERLAP E13 E14 E15 E16 E17 E20 E21 E22 E23 E24 E25 E26 E27 E28 E29 E30 +R82 BEFORE Arg1:E30 Arg2:E31 +* OVERLAP E31 E32 E33 E34 E35 E36 E37 E38 E44 E45 E46 E47 +R83 BEFORE Arg1:E47 Arg2:E39 +* OVERLAP E39 E41 E43 +R84 BEFORE Arg1:E43 Arg2:E77 +* OVERLAP E77 E78 +R85 BEFORE Arg1:E78 Arg2:E80 +* OVERLAP E80 E81 E86