--- a +++ b/processing/MACCROBAT/19307547.ann @@ -0,0 +1,300 @@ +T1 Age 2 9 newborn +T2 Sex 10 13 boy +T3 Family_history 17 50 healthy nonconsanguineous parents +T4 Clinical_event 55 64 delivered +E1 Clinical_event:T4 +T5 Date 68 87 37 weeks’ gestation +E2 Date:T5 +T6 Therapeutic_procedure 91 107 cesarean section +E3 Therapeutic_procedure:T6 +T7 Subject 113 119 mother +T8 Family_history 132 144 32 years old +T9 Family_history 121 130 primipara +T10 Clinical_event 155 163 admitted +E4 Clinical_event:T10 +T11 Nonbiological_location 171 179 hospital +T12 Date 180 198 2 weeks previously +E5 Date:T12 +T13 Sign_symptom 218 246 fetal intrauterine movements +E6 Sign_symptom:T13 +T14 Lab_value 210 217 reduced +R1 MODIFY Arg1:T14 Arg2:E6 +T15 Sign_symptom 251 265 polyhydramnios +E7 Sign_symptom:T15 +T16 Diagnostic_procedure 279 290 birthweight +E8 Diagnostic_procedure:T16 +T17 Lab_value 295 302 2,330 g +R2 MODIFY Arg1:T17 Arg2:E8 +T18 Lab_value 304 320 <10th percentile +R3 MODIFY Arg1:T18 Arg2:E8 +T19 Diagnostic_procedure 323 329 length +E9 Diagnostic_procedure:T19 +T20 Lab_value 330 335 47 cm +R4 MODIFY Arg1:T20 Arg2:E9 +T21 Diagnostic_procedure 341 359 head circumference +E10 Diagnostic_procedure:T21 +T22 Lab_value 360 367 33.2 cm +R5 MODIFY Arg1:T22 Arg2:E10 +T23 Sign_symptom 394 406 low-set ears +E11 Sign_symptom:T23 +T24 Sign_symptom 411 429 bilateral clubfoot +E12 Sign_symptom:T24 +T25 Diagnostic_procedure 431 443 Apgar scores +E13 Diagnostic_procedure:T25 +T26 Time 464 465;477 484 1 minutes +E14 Time:T26 +T27 Time 474 484 10 minutes +E15 Time:T27 +T28 Time 467 468;477 484 5 minutes +E16 Time:T28 +T29 Lab_value 449 450 2 +T30 Lab_value 452 453 6 +T31 Lab_value 459 460 7 +R6 MODIFY Arg1:E14 Arg2:T29 +R7 MODIFY Arg1:T29 Arg2:E13 +R8 MODIFY Arg1:E16 Arg2:T30 +R9 MODIFY Arg1:T30 Arg2:E13 +R10 MODIFY Arg1:E15 Arg2:T31 +R11 MODIFY Arg1:T31 Arg2:E13 +T32 Sign_symptom 518 527 hypotonia +E17 Sign_symptom:T32 +T33 Severity 511 517 severe +R12 MODIFY Arg1:T33 Arg2:E17 +T34 Clinical_event 496 505 presented +E18 Clinical_event:T34 +T35 Sign_symptom 532 559 generalized muscle weakness +E19 Sign_symptom:T35 +T36 Therapeutic_procedure 571 593 ventilatory assistance +E20 Therapeutic_procedure:T36 +T37 Therapeutic_procedure 598 624 total parenteral nutrition +E21 Therapeutic_procedure:T37 +T38 Disease_disorder 689 709 respiratory acidosis +E22 Disease_disorder:T38 +T39 Sign_symptom 711 723 Hearing loss +E23 Sign_symptom:T39 +T40 Diagnostic_procedure 740 766 auditory evoked potentials +E24 Diagnostic_procedure:T40 +T41 Diagnostic_procedure 782 785 MRI +E25 Diagnostic_procedure:T41 +T42 Biological_structure 774 781 cranial +R13 MODIFY Arg1:T42 Arg2:E25 +T43 Lab_value 793 808 mildly enlarged +T44 Biological_structure 809 819 ventricles +R14 MODIFY Arg1:T43 Arg2:T44 +R15 MODIFY Arg1:T44 Arg2:E25 +T45 Biological_structure 824 837 liquor spaces +R16 MODIFY Arg1:T43 Arg2:T45 +R17 MODIFY Arg1:T45 Arg2:E25 +T46 Date 839 859 Two days after birth +E26 Date:T46 +T47 Sign_symptom 894 914 abdominal distension +E27 Sign_symptom:T47 +T48 Severity 887 893 severe +R18 MODIFY Arg1:T48 Arg2:E27 +T49 Sign_symptom 922 938 hypoactive bowel +E28 Sign_symptom:T49 +T50 Diagnostic_procedure 940 943 MRI +E29 Diagnostic_procedure:T50 +T51 Sign_symptom 960 979 intestinal dilation +E30 Sign_symptom:T51 +T52 Severity 953 959 marked +R19 MODIFY Arg1:T52 Arg2:E30 +T53 Sign_symptom 988 1010 mechanical obstruction +E31 Sign_symptom:T53 +A1 POLARITY E31 NEG +R20 MODIFY Arg1:E31 Arg2:E30 +T54 Diagnostic_procedure 1012 1037 Laboratory investigations +E32 Diagnostic_procedure:T54 +T56 Lab_value 1059 1067 27 mg/dL +T57 Sign_symptom 1070 1084 hypomagnesemia +E33 Sign_symptom:T57 +T55 Sign_symptom 1045 1057 hypoglycemia +E34 Sign_symptom:T55 +T58 Lab_value 1086 1097 0.58 mmol/L +T59 Lab_value 1117 1127 2.4 mmol/L +R21 MODIFY Arg1:T56 Arg2:E34 +R22 MODIFY Arg1:T58 Arg2:E33 +T60 Sign_symptom 1104 1115 hypokalemia +E35 Sign_symptom:T60 +R23 MODIFY Arg1:T59 Arg2:E35 +R24 MODIFY Arg1:E34 Arg2:E32 +R25 MODIFY Arg1:E33 Arg2:E32 +R26 MODIFY Arg1:E35 Arg2:E32 +T61 Diagnostic_procedure 1130 1143 Blood lactate +E36 Diagnostic_procedure:T61 +T62 Lab_value 1156 1166 1.3 mmol/L +T63 Lab_value 1148 1154 normal +T64 Diagnostic_procedure 1201 1214 liver enzymes +E37 Diagnostic_procedure:T64 +T65 Lab_value 1220 1232 unremarkable +R27 MODIFY Arg1:T65 Arg2:E37 +R28 MODIFY Arg1:T63 Arg2:E36 +R29 MODIFY Arg1:T62 Arg2:E36 +T66 Detailed_description 1168 1195 normal range 0.5–2.2 mmol/L +R30 MODIFY Arg1:T66 Arg2:E36 +T67 Diagnostic_procedure 1252 1258 biopsy +E38 Diagnostic_procedure:T67 +T68 Biological_structure 1236 1251 skeletal muscle +R31 MODIFY Arg1:T68 Arg2:E38 +T69 Disease_disorder 1419 1441 mitochondrial disorder +E39 Disease_disorder:T69 +A2 POLARITY E39 UNCERTAIN +T70 Biological_structure 1382 1395 muscle fibers +T71 Diagnostic_procedure 1308 1328 cytochrome c oxidase +E40 Diagnostic_procedure:T71 +T72 Diagnostic_procedure 1330 1333 COX +E41 Diagnostic_procedure:T72 +R32 IDENTICAL Arg1:E41 Arg2:E40 +T73 Lab_value 1335 1344 deficient +R33 MODIFY Arg1:T73 Arg2:E40 +T74 Diagnostic_procedure 1349 1372 succinate dehydrogenase +E42 Diagnostic_procedure:T74 +T75 Lab_value 1373 1381 positive +R34 MODIFY Arg1:T75 Arg2:E42 +T76 Detailed_description 1284 1293 scattered +R35 MODIFY Arg1:T76 Arg2:T70 +T77 Detailed_description 1295 1307 hypertrophic +R36 MODIFY Arg1:T77 Arg2:T70 +R37 MODIFY Arg1:T70 Arg2:E40 +R38 MODIFY Arg1:T70 Arg2:E42 +T78 Diagnostic_procedure 1443 1468 Molecular genetic studies +E43 Diagnostic_procedure:T78 +T79 Sign_symptom 1485 1500 mtDNA depletion +E44 Sign_symptom:T79 +T80 Severity 1478 1484 marked +R39 MODIFY Arg1:T80 Arg2:E44 +T81 Lab_value 1512 1524 93% decrease +R40 MODIFY Arg1:T81 Arg2:E44 +T82 Detailed_description 1528 1560 compared to age-matched controls +R41 MODIFY Arg1:T82 Arg2:T81 +T83 Diagnostic_procedure 1571 1602 screen for mtDNA rearrangements +E45 Diagnostic_procedure:T83 +T84 Biological_structure 1610 1633;1652 1658 individual COX-positive fibers +T85 Biological_structure 1638 1658 COX-deficient fibers +T86 Lab_value 1664 1672 negative +R42 MODIFY Arg1:T84 Arg2:E45 +R43 MODIFY Arg1:T85 Arg2:E45 +R44 MODIFY Arg1:T86 Arg2:E45 +T87 Diagnostic_procedure 1677 1686 sequenced +E46 Diagnostic_procedure:T87 +T88 Biological_structure 1746 1756 POLG1 gene +R45 MODIFY Arg1:T88 Arg2:E46 +T89 Detailed_description 1691 1738 entire coding region and intron-exon boundaries +R46 MODIFY Arg1:T89 Arg2:E46 +T90 Sign_symptom 1783 1814 heterozygous missense mutations +E47 Sign_symptom:T90 +T91 Lab_value 1770 1773 two +R47 MODIFY Arg1:T91 Arg2:E47 +T92 Sign_symptom 1827 1854 c.679C>T predicting p.R227W +E48 Sign_symptom:T92 +R48 MODIFY Arg1:E48 Arg2:E47 +T93 Sign_symptom 1859 1887 c.2542G>A predicting p.G848S +E49 Sign_symptom:T93 +R49 MODIFY Arg1:E49 Arg2:E47 +T94 Diagnostic_procedure 1889 1919 Sequencing of parental samples +E50 Diagnostic_procedure:T94 +T95 Sign_symptom 1930 1951 recessive inheritance +E51 Sign_symptom:T95 +T96 Outcome 1964 1968 died +E52 Outcome:T96 +T97 Date 1972 1979 20 days +E53 Date:T97 +T98 Disease_disorder 1983 2002 respiratory failure +E54 Disease_disorder:T98 +T99 Diagnostic_procedure 2007 2014 autopsy +E55 Diagnostic_procedure:T99 +T100 Diagnostic_procedure 2061 2078 gross examination +E56 Diagnostic_procedure:T100 +T101 Sign_symptom 2039 2057 remarkable changes +E57 Sign_symptom:T101 +A3 POLARITY E57 NEG +T102 Biological_structure 2020 2025 brain +R50 MODIFY Arg1:T102 Arg2:E57 +R51 SUB_PROCEDURE Arg1:E56 Arg2:E55 +T103 Diagnostic_procedure 2080 2089 Histology +E58 Diagnostic_procedure:T103 +R52 SUB_PROCEDURE Arg1:E58 Arg2:E55 +T104 Sign_symptom 2171 2186 neuronal damage +E59 Sign_symptom:T104 +A4 POLARITY E59 NEG +T105 Biological_structure 2194 2205 spinal cord +R53 MODIFY Arg1:T105 Arg2:E59 +T106 Sign_symptom 2232 2243 cholestasis +E60 Sign_symptom:T106 +T107 Biological_structure 2211 2216 liver +R54 MODIFY Arg1:T107 Arg2:E60 +T108 Detailed_description 2224 2231 diffuse +R55 MODIFY Arg1:T108 Arg2:E60 +T109 Sign_symptom 2300 2309 steatosis +E61 Sign_symptom:T109 +A5 POLARITY E61 NEG +T110 Sign_symptom 2311 2319 necrosis +E62 Sign_symptom:T110 +A6 POLARITY E62 NEG +T111 Biological_structure 2289 2299 hepatocyte +R56 MODIFY Arg1:T111 Arg2:E61 +R57 MODIFY Arg1:T111 Arg2:E62 +T112 Sign_symptom 2330 2338 fibrosis +E63 Sign_symptom:T112 +A7 POLARITY E63 NEG +T113 Biological_structure 2324 2329 liver +R58 MODIFY Arg1:T113 Arg2:E63 +T114 Sign_symptom 2454 2462 dilation +E64 Sign_symptom:T114 +T115 Sign_symptom 2467 2475 thinning +E65 Sign_symptom:T115 +T116 Biological_structure 2483 2493 bowel wall +R59 MODIFY Arg1:T116 Arg2:E65 +R60 MODIFY Arg1:T116 Arg2:E64 +T117 Sign_symptom 2587 2602 mtDNA depletion +E66 Sign_symptom:T117 +T118 Severity 2580 2586 severe +R61 MODIFY Arg1:T118 Arg2:E66 +T119 Lab_value 2604 2622 up to 94% decrease +R62 MODIFY Arg1:T119 Arg2:E66 +T120 Biological_structure 2533 2540;2559 2570 stomach homogenates +T121 Biological_structure 2542 2547;2559 2570 ileum homogenates +T122 Biological_structure 2553 2570 colon homogenates +R63 MODIFY Arg1:T122 Arg2:E66 +R64 MODIFY Arg1:T120 Arg2:E66 +R65 MODIFY Arg1:T121 Arg2:E66 +T123 Diagnostic_procedure 2684 2722 Laser capture microdissection analysis +E67 Diagnostic_procedure:T123 +T124 Coreference 2742 2757 mtDNA depletion +E68 Coreference:T124 +R66 IDENTICAL Arg1:E68 Arg2:E66 +T125 Biological_structure 2778 2796 muscularis propria +R67 MODIFY Arg1:T125 Arg2:E68 +T126 Detailed_description 2826 2840 external layer +R68 MODIFY Arg1:T126 Arg2:T125 +T127 Coreference 2906 2921 mtDNA depletion +E69 Coreference:T127 +T128 Severity 2899 2905 milder +R69 MODIFY Arg1:T128 Arg2:E69 +R70 IDENTICAL Arg1:E69 Arg2:E66 +T129 Biological_structure 2851 2865 Ganglion cells +T130 Biological_structure 2875 2891 myenteric plexus +R71 MODIFY Arg1:T129 Arg2:T130 +R72 MODIFY Arg1:T130 Arg2:E69 +T131 Biological_structure 2941 2956 small intestine +R73 MODIFY Arg1:T131 Arg2:E69 +T132 Sign_symptom 2980 2995 mtDNA depletion +E70 Sign_symptom:T132 +A8 POLARITY E70 NEG +T133 Biological_structure 2999 3004 liver +R74 MODIFY Arg1:T133 Arg2:E70 +R75 MODIFY Arg1:T9 Arg2:T7 +R76 MODIFY Arg1:T8 Arg2:T7 +R77 MODIFY Arg1:T7 Arg2:E4 +R78 MODIFY Arg1:T11 Arg2:E4 +R79 AFTER Arg1:E3 Arg2:E4 +* OVERLAP E1 E2 E3 +* OVERLAP E4 E5 E6 E7 +R80 BEFORE Arg1:E7 Arg2:E8 +* OVERLAP E8 E9 E10 E11 E12 E13 E18 E17 E19 E20 E21 E22 E23 E24 E25 +R81 BEFORE Arg1:E25 Arg2:E26 +* OVERLAP E26 E27 E28 E29 E30 E32 E36 E37 E38 E40 E42 E39 E43 E44 E45 E46 E47 E50 E51 +R82 BEFORE Arg1:E51 Arg2:E52 +* OVERLAP E52 E53 E54 +R83 BEFORE Arg1:E54 Arg2:E55 +* OVERLAP E55 E57 E59 E60 E61 E62 E63 E64 E65 E66 E67 E68 E69 E70