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b/processing/MACCROBAT/19307547.ann |
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1 |
T1 Age 2 9 newborn |
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2 |
T2 Sex 10 13 boy |
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3 |
T3 Family_history 17 50 healthy nonconsanguineous parents |
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4 |
T4 Clinical_event 55 64 delivered |
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5 |
E1 Clinical_event:T4 |
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T5 Date 68 87 37 weeks’ gestation |
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E2 Date:T5 |
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T6 Therapeutic_procedure 91 107 cesarean section |
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E3 Therapeutic_procedure:T6 |
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T7 Subject 113 119 mother |
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T8 Family_history 132 144 32 years old |
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T9 Family_history 121 130 primipara |
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T10 Clinical_event 155 163 admitted |
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E4 Clinical_event:T10 |
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T11 Nonbiological_location 171 179 hospital |
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T12 Date 180 198 2 weeks previously |
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17 |
E5 Date:T12 |
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T13 Sign_symptom 218 246 fetal intrauterine movements |
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19 |
E6 Sign_symptom:T13 |
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T14 Lab_value 210 217 reduced |
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21 |
R1 MODIFY Arg1:T14 Arg2:E6 |
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22 |
T15 Sign_symptom 251 265 polyhydramnios |
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23 |
E7 Sign_symptom:T15 |
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24 |
T16 Diagnostic_procedure 279 290 birthweight |
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25 |
E8 Diagnostic_procedure:T16 |
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26 |
T17 Lab_value 295 302 2,330 g |
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R2 MODIFY Arg1:T17 Arg2:E8 |
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28 |
T18 Lab_value 304 320 <10th percentile |
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29 |
R3 MODIFY Arg1:T18 Arg2:E8 |
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30 |
T19 Diagnostic_procedure 323 329 length |
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31 |
E9 Diagnostic_procedure:T19 |
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T20 Lab_value 330 335 47 cm |
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R4 MODIFY Arg1:T20 Arg2:E9 |
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T21 Diagnostic_procedure 341 359 head circumference |
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E10 Diagnostic_procedure:T21 |
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T22 Lab_value 360 367 33.2 cm |
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R5 MODIFY Arg1:T22 Arg2:E10 |
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38 |
T23 Sign_symptom 394 406 low-set ears |
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39 |
E11 Sign_symptom:T23 |
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T24 Sign_symptom 411 429 bilateral clubfoot |
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E12 Sign_symptom:T24 |
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T25 Diagnostic_procedure 431 443 Apgar scores |
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E13 Diagnostic_procedure:T25 |
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T26 Time 464 465;477 484 1 minutes |
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E14 Time:T26 |
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T27 Time 474 484 10 minutes |
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E15 Time:T27 |
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T28 Time 467 468;477 484 5 minutes |
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E16 Time:T28 |
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T29 Lab_value 449 450 2 |
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T30 Lab_value 452 453 6 |
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T31 Lab_value 459 460 7 |
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R6 MODIFY Arg1:E14 Arg2:T29 |
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R7 MODIFY Arg1:T29 Arg2:E13 |
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R8 MODIFY Arg1:E16 Arg2:T30 |
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56 |
R9 MODIFY Arg1:T30 Arg2:E13 |
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57 |
R10 MODIFY Arg1:E15 Arg2:T31 |
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R11 MODIFY Arg1:T31 Arg2:E13 |
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59 |
T32 Sign_symptom 518 527 hypotonia |
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E17 Sign_symptom:T32 |
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T33 Severity 511 517 severe |
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R12 MODIFY Arg1:T33 Arg2:E17 |
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T34 Clinical_event 496 505 presented |
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E18 Clinical_event:T34 |
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T35 Sign_symptom 532 559 generalized muscle weakness |
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E19 Sign_symptom:T35 |
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T36 Therapeutic_procedure 571 593 ventilatory assistance |
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E20 Therapeutic_procedure:T36 |
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T37 Therapeutic_procedure 598 624 total parenteral nutrition |
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E21 Therapeutic_procedure:T37 |
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T38 Disease_disorder 689 709 respiratory acidosis |
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E22 Disease_disorder:T38 |
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T39 Sign_symptom 711 723 Hearing loss |
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E23 Sign_symptom:T39 |
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T40 Diagnostic_procedure 740 766 auditory evoked potentials |
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E24 Diagnostic_procedure:T40 |
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T41 Diagnostic_procedure 782 785 MRI |
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E25 Diagnostic_procedure:T41 |
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T42 Biological_structure 774 781 cranial |
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R13 MODIFY Arg1:T42 Arg2:E25 |
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T43 Lab_value 793 808 mildly enlarged |
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T44 Biological_structure 809 819 ventricles |
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R14 MODIFY Arg1:T43 Arg2:T44 |
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R15 MODIFY Arg1:T44 Arg2:E25 |
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T45 Biological_structure 824 837 liquor spaces |
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R16 MODIFY Arg1:T43 Arg2:T45 |
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R17 MODIFY Arg1:T45 Arg2:E25 |
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T46 Date 839 859 Two days after birth |
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E26 Date:T46 |
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T47 Sign_symptom 894 914 abdominal distension |
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E27 Sign_symptom:T47 |
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T48 Severity 887 893 severe |
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R18 MODIFY Arg1:T48 Arg2:E27 |
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T49 Sign_symptom 922 938 hypoactive bowel |
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E28 Sign_symptom:T49 |
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T50 Diagnostic_procedure 940 943 MRI |
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E29 Diagnostic_procedure:T50 |
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T51 Sign_symptom 960 979 intestinal dilation |
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E30 Sign_symptom:T51 |
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T52 Severity 953 959 marked |
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R19 MODIFY Arg1:T52 Arg2:E30 |
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102 |
T53 Sign_symptom 988 1010 mechanical obstruction |
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E31 Sign_symptom:T53 |
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104 |
A1 POLARITY E31 NEG |
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R20 MODIFY Arg1:E31 Arg2:E30 |
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106 |
T54 Diagnostic_procedure 1012 1037 Laboratory investigations |
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107 |
E32 Diagnostic_procedure:T54 |
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T56 Lab_value 1059 1067 27 mg/dL |
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109 |
T57 Sign_symptom 1070 1084 hypomagnesemia |
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110 |
E33 Sign_symptom:T57 |
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T55 Sign_symptom 1045 1057 hypoglycemia |
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112 |
E34 Sign_symptom:T55 |
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113 |
T58 Lab_value 1086 1097 0.58 mmol/L |
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114 |
T59 Lab_value 1117 1127 2.4 mmol/L |
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115 |
R21 MODIFY Arg1:T56 Arg2:E34 |
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116 |
R22 MODIFY Arg1:T58 Arg2:E33 |
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117 |
T60 Sign_symptom 1104 1115 hypokalemia |
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118 |
E35 Sign_symptom:T60 |
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119 |
R23 MODIFY Arg1:T59 Arg2:E35 |
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120 |
R24 MODIFY Arg1:E34 Arg2:E32 |
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121 |
R25 MODIFY Arg1:E33 Arg2:E32 |
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122 |
R26 MODIFY Arg1:E35 Arg2:E32 |
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123 |
T61 Diagnostic_procedure 1130 1143 Blood lactate |
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124 |
E36 Diagnostic_procedure:T61 |
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T62 Lab_value 1156 1166 1.3 mmol/L |
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126 |
T63 Lab_value 1148 1154 normal |
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127 |
T64 Diagnostic_procedure 1201 1214 liver enzymes |
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128 |
E37 Diagnostic_procedure:T64 |
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129 |
T65 Lab_value 1220 1232 unremarkable |
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130 |
R27 MODIFY Arg1:T65 Arg2:E37 |
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131 |
R28 MODIFY Arg1:T63 Arg2:E36 |
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132 |
R29 MODIFY Arg1:T62 Arg2:E36 |
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133 |
T66 Detailed_description 1168 1195 normal range 0.5–2.2 mmol/L |
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134 |
R30 MODIFY Arg1:T66 Arg2:E36 |
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135 |
T67 Diagnostic_procedure 1252 1258 biopsy |
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136 |
E38 Diagnostic_procedure:T67 |
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T68 Biological_structure 1236 1251 skeletal muscle |
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138 |
R31 MODIFY Arg1:T68 Arg2:E38 |
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139 |
T69 Disease_disorder 1419 1441 mitochondrial disorder |
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140 |
E39 Disease_disorder:T69 |
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141 |
A2 POLARITY E39 UNCERTAIN |
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142 |
T70 Biological_structure 1382 1395 muscle fibers |
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143 |
T71 Diagnostic_procedure 1308 1328 cytochrome c oxidase |
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144 |
E40 Diagnostic_procedure:T71 |
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145 |
T72 Diagnostic_procedure 1330 1333 COX |
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146 |
E41 Diagnostic_procedure:T72 |
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147 |
R32 IDENTICAL Arg1:E41 Arg2:E40 |
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148 |
T73 Lab_value 1335 1344 deficient |
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149 |
R33 MODIFY Arg1:T73 Arg2:E40 |
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150 |
T74 Diagnostic_procedure 1349 1372 succinate dehydrogenase |
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151 |
E42 Diagnostic_procedure:T74 |
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152 |
T75 Lab_value 1373 1381 positive |
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153 |
R34 MODIFY Arg1:T75 Arg2:E42 |
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154 |
T76 Detailed_description 1284 1293 scattered |
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155 |
R35 MODIFY Arg1:T76 Arg2:T70 |
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156 |
T77 Detailed_description 1295 1307 hypertrophic |
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157 |
R36 MODIFY Arg1:T77 Arg2:T70 |
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158 |
R37 MODIFY Arg1:T70 Arg2:E40 |
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159 |
R38 MODIFY Arg1:T70 Arg2:E42 |
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160 |
T78 Diagnostic_procedure 1443 1468 Molecular genetic studies |
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161 |
E43 Diagnostic_procedure:T78 |
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162 |
T79 Sign_symptom 1485 1500 mtDNA depletion |
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163 |
E44 Sign_symptom:T79 |
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164 |
T80 Severity 1478 1484 marked |
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165 |
R39 MODIFY Arg1:T80 Arg2:E44 |
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166 |
T81 Lab_value 1512 1524 93% decrease |
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167 |
R40 MODIFY Arg1:T81 Arg2:E44 |
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168 |
T82 Detailed_description 1528 1560 compared to age-matched controls |
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169 |
R41 MODIFY Arg1:T82 Arg2:T81 |
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170 |
T83 Diagnostic_procedure 1571 1602 screen for mtDNA rearrangements |
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171 |
E45 Diagnostic_procedure:T83 |
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172 |
T84 Biological_structure 1610 1633;1652 1658 individual COX-positive fibers |
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173 |
T85 Biological_structure 1638 1658 COX-deficient fibers |
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174 |
T86 Lab_value 1664 1672 negative |
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175 |
R42 MODIFY Arg1:T84 Arg2:E45 |
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176 |
R43 MODIFY Arg1:T85 Arg2:E45 |
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177 |
R44 MODIFY Arg1:T86 Arg2:E45 |
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178 |
T87 Diagnostic_procedure 1677 1686 sequenced |
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179 |
E46 Diagnostic_procedure:T87 |
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180 |
T88 Biological_structure 1746 1756 POLG1 gene |
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181 |
R45 MODIFY Arg1:T88 Arg2:E46 |
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182 |
T89 Detailed_description 1691 1738 entire coding region and intron-exon boundaries |
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183 |
R46 MODIFY Arg1:T89 Arg2:E46 |
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184 |
T90 Sign_symptom 1783 1814 heterozygous missense mutations |
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185 |
E47 Sign_symptom:T90 |
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186 |
T91 Lab_value 1770 1773 two |
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187 |
R47 MODIFY Arg1:T91 Arg2:E47 |
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188 |
T92 Sign_symptom 1827 1854 c.679C>T predicting p.R227W |
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189 |
E48 Sign_symptom:T92 |
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190 |
R48 MODIFY Arg1:E48 Arg2:E47 |
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191 |
T93 Sign_symptom 1859 1887 c.2542G>A predicting p.G848S |
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192 |
E49 Sign_symptom:T93 |
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193 |
R49 MODIFY Arg1:E49 Arg2:E47 |
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194 |
T94 Diagnostic_procedure 1889 1919 Sequencing of parental samples |
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195 |
E50 Diagnostic_procedure:T94 |
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196 |
T95 Sign_symptom 1930 1951 recessive inheritance |
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197 |
E51 Sign_symptom:T95 |
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198 |
T96 Outcome 1964 1968 died |
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199 |
E52 Outcome:T96 |
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200 |
T97 Date 1972 1979 20 days |
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201 |
E53 Date:T97 |
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202 |
T98 Disease_disorder 1983 2002 respiratory failure |
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203 |
E54 Disease_disorder:T98 |
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204 |
T99 Diagnostic_procedure 2007 2014 autopsy |
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205 |
E55 Diagnostic_procedure:T99 |
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206 |
T100 Diagnostic_procedure 2061 2078 gross examination |
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207 |
E56 Diagnostic_procedure:T100 |
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208 |
T101 Sign_symptom 2039 2057 remarkable changes |
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209 |
E57 Sign_symptom:T101 |
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210 |
A3 POLARITY E57 NEG |
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211 |
T102 Biological_structure 2020 2025 brain |
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212 |
R50 MODIFY Arg1:T102 Arg2:E57 |
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213 |
R51 SUB_PROCEDURE Arg1:E56 Arg2:E55 |
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214 |
T103 Diagnostic_procedure 2080 2089 Histology |
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215 |
E58 Diagnostic_procedure:T103 |
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216 |
R52 SUB_PROCEDURE Arg1:E58 Arg2:E55 |
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217 |
T104 Sign_symptom 2171 2186 neuronal damage |
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218 |
E59 Sign_symptom:T104 |
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219 |
A4 POLARITY E59 NEG |
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220 |
T105 Biological_structure 2194 2205 spinal cord |
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221 |
R53 MODIFY Arg1:T105 Arg2:E59 |
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222 |
T106 Sign_symptom 2232 2243 cholestasis |
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223 |
E60 Sign_symptom:T106 |
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224 |
T107 Biological_structure 2211 2216 liver |
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225 |
R54 MODIFY Arg1:T107 Arg2:E60 |
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226 |
T108 Detailed_description 2224 2231 diffuse |
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227 |
R55 MODIFY Arg1:T108 Arg2:E60 |
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228 |
T109 Sign_symptom 2300 2309 steatosis |
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229 |
E61 Sign_symptom:T109 |
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230 |
A5 POLARITY E61 NEG |
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231 |
T110 Sign_symptom 2311 2319 necrosis |
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232 |
E62 Sign_symptom:T110 |
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233 |
A6 POLARITY E62 NEG |
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234 |
T111 Biological_structure 2289 2299 hepatocyte |
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235 |
R56 MODIFY Arg1:T111 Arg2:E61 |
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236 |
R57 MODIFY Arg1:T111 Arg2:E62 |
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237 |
T112 Sign_symptom 2330 2338 fibrosis |
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238 |
E63 Sign_symptom:T112 |
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239 |
A7 POLARITY E63 NEG |
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240 |
T113 Biological_structure 2324 2329 liver |
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241 |
R58 MODIFY Arg1:T113 Arg2:E63 |
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242 |
T114 Sign_symptom 2454 2462 dilation |
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243 |
E64 Sign_symptom:T114 |
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244 |
T115 Sign_symptom 2467 2475 thinning |
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245 |
E65 Sign_symptom:T115 |
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246 |
T116 Biological_structure 2483 2493 bowel wall |
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247 |
R59 MODIFY Arg1:T116 Arg2:E65 |
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248 |
R60 MODIFY Arg1:T116 Arg2:E64 |
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249 |
T117 Sign_symptom 2587 2602 mtDNA depletion |
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250 |
E66 Sign_symptom:T117 |
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251 |
T118 Severity 2580 2586 severe |
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252 |
R61 MODIFY Arg1:T118 Arg2:E66 |
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253 |
T119 Lab_value 2604 2622 up to 94% decrease |
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254 |
R62 MODIFY Arg1:T119 Arg2:E66 |
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255 |
T120 Biological_structure 2533 2540;2559 2570 stomach homogenates |
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256 |
T121 Biological_structure 2542 2547;2559 2570 ileum homogenates |
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257 |
T122 Biological_structure 2553 2570 colon homogenates |
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258 |
R63 MODIFY Arg1:T122 Arg2:E66 |
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259 |
R64 MODIFY Arg1:T120 Arg2:E66 |
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260 |
R65 MODIFY Arg1:T121 Arg2:E66 |
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261 |
T123 Diagnostic_procedure 2684 2722 Laser capture microdissection analysis |
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262 |
E67 Diagnostic_procedure:T123 |
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263 |
T124 Coreference 2742 2757 mtDNA depletion |
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264 |
E68 Coreference:T124 |
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265 |
R66 IDENTICAL Arg1:E68 Arg2:E66 |
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266 |
T125 Biological_structure 2778 2796 muscularis propria |
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267 |
R67 MODIFY Arg1:T125 Arg2:E68 |
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268 |
T126 Detailed_description 2826 2840 external layer |
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269 |
R68 MODIFY Arg1:T126 Arg2:T125 |
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270 |
T127 Coreference 2906 2921 mtDNA depletion |
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271 |
E69 Coreference:T127 |
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272 |
T128 Severity 2899 2905 milder |
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273 |
R69 MODIFY Arg1:T128 Arg2:E69 |
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274 |
R70 IDENTICAL Arg1:E69 Arg2:E66 |
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275 |
T129 Biological_structure 2851 2865 Ganglion cells |
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276 |
T130 Biological_structure 2875 2891 myenteric plexus |
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277 |
R71 MODIFY Arg1:T129 Arg2:T130 |
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278 |
R72 MODIFY Arg1:T130 Arg2:E69 |
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279 |
T131 Biological_structure 2941 2956 small intestine |
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280 |
R73 MODIFY Arg1:T131 Arg2:E69 |
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281 |
T132 Sign_symptom 2980 2995 mtDNA depletion |
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282 |
E70 Sign_symptom:T132 |
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283 |
A8 POLARITY E70 NEG |
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284 |
T133 Biological_structure 2999 3004 liver |
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285 |
R74 MODIFY Arg1:T133 Arg2:E70 |
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286 |
R75 MODIFY Arg1:T9 Arg2:T7 |
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287 |
R76 MODIFY Arg1:T8 Arg2:T7 |
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288 |
R77 MODIFY Arg1:T7 Arg2:E4 |
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289 |
R78 MODIFY Arg1:T11 Arg2:E4 |
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290 |
R79 AFTER Arg1:E3 Arg2:E4 |
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291 |
* OVERLAP E1 E2 E3 |
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292 |
* OVERLAP E4 E5 E6 E7 |
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293 |
R80 BEFORE Arg1:E7 Arg2:E8 |
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294 |
* OVERLAP E8 E9 E10 E11 E12 E13 E18 E17 E19 E20 E21 E22 E23 E24 E25 |
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295 |
R81 BEFORE Arg1:E25 Arg2:E26 |
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296 |
* OVERLAP E26 E27 E28 E29 E30 E32 E36 E37 E38 E40 E42 E39 E43 E44 E45 E46 E47 E50 E51 |
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297 |
R82 BEFORE Arg1:E51 Arg2:E52 |
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298 |
* OVERLAP E52 E53 E54 |
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299 |
R83 BEFORE Arg1:E54 Arg2:E55 |
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300 |
* OVERLAP E55 E57 E59 E60 E61 E62 E63 E64 E65 E66 E67 E68 E69 E70 |