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T1 Sex 28 34 female T2 Age 35 40 child T3 Family_history 109 163 consanguineous, first-cousin British Pakistani parents T4 Subject 156 163 parents T5 Detailed_description 109 123 consanguineous T6 Detailed_description 125 137 first-cousin T7 Personal_background 138 155 British Pakistani R1 MODIFY Arg1:T6 Arg2:T4 R2 MODIFY Arg1:T5 Arg2:T4 T8 Therapeutic_procedure 63 80 caesarean section E1 Therapeutic_procedure:T8 T9 Detailed_description 53 62 emergency R3 MODIFY Arg1:T9 Arg2:E1 T10 Clinical_event 42 46 born E2 Clinical_event:T10 T11 Quantitative_concept 84 105 34 weeks of gestation R4 MODIFY Arg1:T11 Arg2:E1 T12 Diagnostic_procedure 165 180 Antenatal scans E3 Diagnostic_procedure:T12 T14 Diagnostic_procedure 226 234 weighing E4 Diagnostic_procedure:T14 T17 Diagnostic_procedure 259 277 head circumference E5 Diagnostic_procedure:T17 T18 Lab_value 281 288 26.7 cm R7 MODIFY Arg1:T18 Arg2:E5 T19 Therapeutic_procedure 442 459 caesarean section E6 Therapeutic_procedure:T19 T21 Diagnostic_procedure 465 477 Apgar scores E7 Diagnostic_procedure:T21 T25 Detailed_description 488 493 1 min T26 Detailed_description 500 505 5 min T27 Detailed_description 515 521 10 min T28 Sign_symptom 382 400 growth retardation E8 Sign_symptom:T28 T29 Detailed_description 432 441 emergency R15 MODIFY Arg1:T29 Arg2:E6 T30 Therapeutic_procedure 328 347 Induction of labour E9 Therapeutic_procedure:T30 A1 POLARITY E9 UNCERTAIN T31 Qualitative_concept 409 415 failed R16 MODIFY Arg1:T31 Arg2:E9 R17 CAUSE Arg1:E8 Arg2:E9 T32 Clinical_event 531 539 admitted E10 Clinical_event:T32 T33 Nonbiological_location 547 575 neonatal intensive care unit R18 MODIFY Arg1:T33 Arg2:E10 T34 Therapeutic_procedure 580 627 continuous positive airway pressure ventilation E11 Therapeutic_procedure:T34 T35 Time 634 650 few hours of age E12 Time:T35 T36 Sign_symptom 675 690 lactic acidosis E13 Sign_symptom:T36 T37 Severity 668 674 severe R19 MODIFY Arg1:T37 Arg2:E13 T38 Diagnostic_procedure 704 729 lactic acid concentration E14 Diagnostic_procedure:T38 T39 Lab_value 734 743 22 mmol/l R20 MODIFY Arg1:T39 Arg2:E14 T41 Detailed_description 748 760 subsequently T42 Lab_value 774 783 63 mmol/l R23 MODIFY Arg1:T41 Arg2:T42 T20 Lab_value 201 206 small E15 Lab_value:T20 R8 MODIFY Arg1:E15 Arg2:E4 T13 Lab_value 235 242 1.19 kg E16 Lab_value:T13 R5 MODIFY Arg1:E16 Arg2:E4 T15 Clinical_event 246 251 birth E17 Clinical_event:T15 T16 Lab_value 290 326 considerably below the 0.4th centile E18 Lab_value:T16 R6 MODIFY Arg1:E18 Arg2:E5 T22 Lab_value 483 484 4 E19 Lab_value:T22 T23 Lab_value 495 496 7 E20 Lab_value:T23 T24 Lab_value 510 511 9 E21 Lab_value:T24 R9 MODIFY Arg1:E19 Arg2:E7 R10 MODIFY Arg1:E20 Arg2:E7 R11 MODIFY Arg1:E21 Arg2:E7 R12 MODIFY Arg1:T25 Arg2:E19 R13 MODIFY Arg1:T26 Arg2:E20 R14 MODIFY Arg1:T27 Arg2:E21 R21 MODIFY Arg1:T42 Arg2:E14 T40 Lab_value 761 770 increased E22 Lab_value:T40 R22 MODIFY Arg1:E22 Arg2:E14 R24 MODIFY Arg1:T41 Arg2:E22 T43 Medication 862 880 sodium bicarbonate E23 Medication:T43 T44 Administration 837 858 intravenous infusions T45 Medication 885 916 Tris-hydroxymethyl aminomethane E24 Medication:T45 T46 Medication 918 922 THAM E25 Medication:T46 R25 IDENTICAL Arg1:E25 Arg2:E24 R26 MODIFY Arg1:T44 Arg2:E23 R27 MODIFY Arg1:T44 Arg2:E24 T47 Sign_symptom 966 984 metabolic acidosis E26 Sign_symptom:T47 T48 Clinical_event 2671 2675 died E27 Clinical_event:T48 T49 Sign_symptom 1005 1018 hypoglycaemia E28 Sign_symptom:T49 T50 Time 1019 1031 within hours E29 Time:T50 T51 Clinical_event 1035 1040 birth E30 Clinical_event:T51 T52 Administration 1068 1088 intravenous infusion T53 Medication 1096 1103 glucose E31 Medication:T53 T54 Dosage 1092 1095 15% T55 Dosage 1105 1118 7.8 mg/kg/min R28 MODIFY Arg1:T54 Arg2:E31 R29 MODIFY Arg1:T55 Arg2:E31 R30 MODIFY Arg1:T52 Arg2:E31 T56 Diagnostic_procedure 1125 1146 ammonia concentration E32 Diagnostic_procedure:T56 T57 Lab_value 1151 1157 normal E33 Lab_value:T57 R31 MODIFY Arg1:E33 Arg2:E32 T58 Diagnostic_procedure 1165 1185 organic acid profile E34 Diagnostic_procedure:T58 T59 Detailed_description 1159 1164 Urine R32 MODIFY Arg1:T59 Arg2:E34 T60 Diagnostic_procedure 1214 1225 lactic acid E35 Diagnostic_procedure:T60 T61 Diagnostic_procedure 1240 1254 phenolic acids E36 Diagnostic_procedure:T61 T62 Lab_value 1230 1239 increased E37 Lab_value:T62 T63 Lab_value 1256 1287 especially hydroxyphenyllactate E38 Lab_value:T63 R33 MODIFY Arg1:E38 Arg2:E36 R34 MODIFY Arg1:E37 Arg2:E36 T64 Lab_value 1201 1210 excretion E39 Lab_value:T64 T65 Severity 1193 1200 massive R35 MODIFY Arg1:T65 Arg2:E39 R36 MODIFY Arg1:E39 Arg2:E35 R37 SUB_PROCEDURE Arg1:E35 Arg2:E34 R38 SUB_PROCEDURE Arg1:E36 Arg2:E34 T66 Diagnostic_procedure 1296 1307 amino acids E40 Diagnostic_procedure:T66 T67 Detailed_description 1289 1295 Plasma R39 MODIFY Arg1:T67 Arg2:E40 T68 Diagnostic_procedure 1340 1347 alanine E41 Diagnostic_procedure:T68 T69 Diagnostic_procedure 1352 1361 glutamine E42 Diagnostic_procedure:T69 T70 Lab_value 1315 1321 raised E43 Lab_value:T70 R40 MODIFY Arg1:E43 Arg2:E41 R41 MODIFY Arg1:E43 Arg2:E42 R42 SUB_PROCEDURE Arg1:E41 Arg2:E40 R43 SUB_PROCEDURE Arg1:E42 Arg2:E40 T71 Lab_value 1363 1367 1567 E44 Lab_value:T71 R44 MODIFY Arg1:E44 Arg2:E41 T72 Lab_value 1372 1383 1369 μmol/l E45 Lab_value:T72 R45 MODIFY Arg1:E45 Arg2:E42 T73 Sign_symptom 1420 1435 lactic acidosis E46 Sign_symptom:T73 T74 Diagnostic_procedure 1445 1462 other amino acids E47 Diagnostic_procedure:T74 T75 Lab_value 1480 1489 increased E48 Lab_value:T75 R46 MODIFY Arg1:E48 Arg2:E47 R47 SUB_PROCEDURE Arg1:E47 Arg2:E40 T76 Sign_symptom 1519 1532 aminoaciduria E49 Sign_symptom:T76 T77 Detailed_description 1507 1518 generalised T78 Severity 1501 1506 gross R48 MODIFY Arg1:T78 Arg2:E49 R49 MODIFY Arg1:T77 Arg2:E49 T79 Diagnostic_procedure 1540 1562 acylcarnitine analysis E50 Diagnostic_procedure:T79 T80 Detailed_description 1534 1539 Blood R50 MODIFY Arg1:T80 Arg2:E50 T81 Lab_value 1567 1573 normal E51 Lab_value:T81 R51 MODIFY Arg1:E51 Arg2:E50 T82 Diagnostic_procedure 1575 1591 Echocardiography E52 Diagnostic_procedure:T82 T83 Lab_value 1601 1620 structurally normal E53 Lab_value:T83 T84 Diagnostic_procedure 1636 1656 ventricular function E54 Diagnostic_procedure:T84 T85 Biological_structure 1621 1626 heart R52 MODIFY Arg1:T85 Arg2:E53 R53 MODIFY Arg1:E53 Arg2:E52 T86 Lab_value 1631 1635 good E55 Lab_value:T86 R54 MODIFY Arg1:E55 Arg2:E54 R55 SUB_PROCEDURE Arg1:E54 Arg2:E52 T87 Diagnostic_procedure 1666 1676 ultrasound E56 Diagnostic_procedure:T87 T88 Biological_structure 1658 1665 Cranial R56 MODIFY Arg1:T88 Arg2:E56 T89 Sign_symptom 2528 2536 acidosis E57 Sign_symptom:T89 A2 TREND E57 INC T90 Medication 2518 2522 THAM E58 Medication:T90 T91 Medication 2502 2513 bicarbonate E59 Medication:T91 T92 Administration 2489 2498 infusions R57 MODIFY Arg1:T92 Arg2:E59 R58 MODIFY Arg1:T92 Arg2:E58 T93 Diagnostic_procedure 2574 2582 biopsies E60 Diagnostic_procedure:T93 T94 Biological_structure 2569 2573 skin T95 Biological_structure 2558 2564 Muscle R59 MODIFY Arg1:T94 Arg2:E60 R60 MODIFY Arg1:T95 Arg2:E60 T96 Date 2681 2685 55 h E61 Date:T96 T97 Therapeutic_procedure 2641 2665 intensive care treatment E62 Therapeutic_procedure:T97 A3 POLARITY E62 NEG T98 Sign_symptom 2455 2463 seizures E63 Sign_symptom:T98 T99 Date 2467 2479 ∼48 h of age E64 Date:T99 T100 Clinical_event 2358 2369 transferred E65 Clinical_event:T100 T101 Nonbiological_location 2375 2390 tertiary centre R61 MODIFY Arg1:T101 Arg2:E65 T102 Sign_symptom 2416 2434 metabolic acidosis E66 Sign_symptom:T102 A4 TREND E66 INC T103 Disease_disorder 2118 2130 coagulopathy E67 Disease_disorder:T103 T104 Severity 2111 2117 severe R62 MODIFY Arg1:T104 Arg2:E67 T105 Diagnostic_procedure 2148 2164 prothrombin time E68 Diagnostic_procedure:T105 T106 Lab_value 2139 2147 extended E69 Lab_value:T106 R63 MODIFY Arg1:E69 Arg2:E68 T107 Lab_value 2168 2174 47.7 s E70 Lab_value:T107 R64 MODIFY Arg1:E70 Arg2:E68 T108 Diagnostic_procedure 2208 2222 plasma albumin E71 Diagnostic_procedure:T108 T109 Lab_value 2199 2207 very low E72 Lab_value:T109 R65 MODIFY Arg1:E72 Arg2:E71 T110 Lab_value 2226 2231 7 g/l E73 Lab_value:T110 R66 MODIFY Arg1:E73 Arg2:E71 T111 Diagnostic_procedure 2269 2289 liver function tests E74 Diagnostic_procedure:T111 T112 Lab_value 2262 2268 normal E75 Lab_value:T112 R67 MODIFY Arg1:E75 Arg2:E74 T113 Diagnostic_procedure 2303 2318 creatine kinase E76 Diagnostic_procedure:T113 T114 Lab_value 2296 2302 raised E77 Lab_value:T114 T115 Lab_value 2322 2330 2700 U/l E78 Lab_value:T115 R68 MODIFY Arg1:E78 Arg2:E76 R69 MODIFY Arg1:E77 Arg2:E76 T116 Diagnostic_procedure 2023 2033 ultrasound E79 Diagnostic_procedure:T116 T117 Biological_structure 2013 2022 Abdominal R70 MODIFY Arg1:T117 Arg2:E79 T118 Sign_symptom 2043 2052 distended E80 Sign_symptom:T118 T119 Biological_structure 2053 2068 urinary bladder R71 MODIFY Arg1:T119 Arg2:E80 T120 Disease_disorder 1983 2011 intraventricular haemorrhage E81 Disease_disorder:T120 A5 POLARITY E81 UNCERTAIN T121 Biological_structure 1914 1930 choroid plexuses T122 Sign_symptom 1936 1947 hyperechoic E82 Sign_symptom:T122 R72 MODIFY Arg1:T121 Arg2:E82 T123 Sign_symptom 1952 1961 irregular E83 Sign_symptom:T123 R73 MODIFY Arg1:T121 Arg2:E83 T124 Sign_symptom 1711 1716 cysts E84 Sign_symptom:T124 T125 Sign_symptom 1806 1811 cysts E85 Sign_symptom:T125 T126 Detailed_description 1795 1805 left-sided R74 MODIFY Arg1:T126 Arg2:E85 T127 Sign_symptom 1870 1874 cyst E86 Sign_symptom:T127 T128 Biological_structure 1694 1710 intraventricular R75 MODIFY Arg1:T128 Arg2:E84 T129 Detailed_description 1684 1693 bilateral R76 MODIFY Arg1:T129 Arg2:E84 T130 Biological_structure 1728 1789 frontal horns and anterior portions of the lateral ventricles R77 MODIFY Arg1:T130 Arg2:E84 T131 Distance 1825 1848 up to 15 mm in diameter R78 MODIFY Arg1:T131 Arg2:E85 T132 Distance 1892 1908 8 mm in diameter R79 MODIFY Arg1:T132 Arg2:E86 * OVERLAP E2 E1 R80 AFTER Arg1:E1 Arg2:E3 R81 BEFORE Arg1:E3 Arg2:E4 * OVERLAP E4 E17 E5 R82 AFTER Arg1:E5 Arg2:E9 * OVERLAP E9 E8 R83 BEFORE Arg1:E8 Arg2:E6 R84 BEFORE Arg1:E6 Arg2:E7 R85 BEFORE Arg1:E7 Arg2:E10 * OVERLAP E10 E11 R86 BEFORE Arg1:E11 Arg2:E12 * OVERLAP E12 E13 E14 E23 E24 E26 E28 E29 R87 AFTER Arg1:E29 Arg2:E30 R88 BEFORE Arg1:E30 Arg2:E31 * OVERLAP E31 E32 E34 E40 E49 E50 E52 E54 E56 E84 E85 E86 E82 E83 E81 E79 E80 E67 E68 E71 E74 E76 R89 BEFORE Arg1:E76 Arg2:E65 * OVERLAP E65 E66 R90 BEFORE Arg1:E66 Arg2:E63 * OVERLAP E63 E64 E59 E58 E57 E60 R91 BEFORE Arg1:E60 Arg2:E62 R92 BEFORE Arg1:E62 Arg2:E27 * OVERLAP E27 E61