--- a +++ b/processing/MACCROBAT/28103924.ann @@ -0,0 +1,233 @@ +T1 Age 18 28 7-year-old +T2 Personal_background 29 36 Italian +T3 Sex 37 40 boy +T4 History 41 94 born after an uneventful gestation of normal duration +T5 Date 96 119 At the age of 16 months +E1 Date:T5 +T6 Clinical_event 124 133 presented +E2 Clinical_event:T6 +T7 Sign_symptom 160 168 enlarged +E3 Sign_symptom:T7 +T8 Biological_structure 169 176 abdomen +R1 MODIFY Arg1:T8 Arg2:E3 +T9 Detailed_description 141 159 clinically evident +R2 MODIFY Arg1:T9 Arg2:E3 +T10 Clinical_event 185 193 referred +E4 Clinical_event:T10 +T11 Nonbiological_location 198 221 oncological examination +R3 MODIFY Arg1:T11 Arg2:E4 +T12 Sign_symptom 246 252 anemia +E5 Sign_symptom:T12 +T13 Sign_symptom 254 270 thrombocytopenia +E6 Sign_symptom:T13 +T14 Sign_symptom 276 288 splenomegaly +E7 Sign_symptom:T14 +T15 Diagnostic_procedure 304 310 biopsy +E8 Diagnostic_procedure:T15 +T16 Biological_structure 292 303 bone marrow +R4 MODIFY Arg1:T16 Arg2:E8 +T17 Sign_symptom 336 346 foam cells +E9 Sign_symptom:T17 +T18 Disease_disorder 374 399 lysosomal storage disease +E10 Disease_disorder:T18 +T19 Diagnostic_procedure 401 420 Biochemical testing +E11 Diagnostic_procedure:T19 +T20 Diagnostic_procedure 448 464 acid phosphatase +E12 Diagnostic_procedure:T20 +T21 Lab_value 466 475 47.8 IU/L +R5 MODIFY Arg1:T21 Arg2:E12 +T22 Lab_value 430 438 elevated +R6 MODIFY Arg1:T22 Arg2:E12 +T23 Diagnostic_procedure 505 529 chitotriosidase activity +E13 Diagnostic_procedure:T23 +R7 MODIFY Arg1:T22 Arg2:E13 +T24 Lab_value 531 550 508 nmol/mg protein +R8 MODIFY Arg1:T24 Arg2:E13 +T25 Diagnostic_procedure 612 637 beta-glucosidase activity +E14 Diagnostic_procedure:T25 +T26 Lab_value 604 611 reduced +R9 MODIFY Arg1:T26 Arg2:E14 +T27 Lab_value 639 656 2 nmol/mg/protein +R10 MODIFY Arg1:T27 Arg2:E14 +T28 Diagnostic_procedure 699 717 Molecular analysis +E15 Diagnostic_procedure:T28 +T29 Disease_disorder 829 832 NGD +E16 Disease_disorder:T29 +#1 AnnotatorNotes E16 neuronopathic Gaucher disease +T30 Sign_symptom 742 767 mutations in the GBA gene +E17 Sign_symptom:T30 +T31 Detailed_description 736 741 L444P +T32 Detailed_description 725 735 homozygous +R11 MODIFY Arg1:T31 Arg2:E17 +R12 MODIFY Arg1:T32 Arg2:E17 +T33 Therapeutic_procedure 852 855 ERT +E18 Therapeutic_procedure:T33 +#2 AnnotatorNotes E18 Enzyme replacement therapy +T34 Dosage 871 892 60 U/kg every 2 weeks +R13 MODIFY Arg1:T34 Arg2:E18 +T35 Date 893 916 at the age of 18 months +E19 Date:T35 +T36 Date 959 975 age of 30 months +E20 Date:T36 +T37 Therapeutic_procedure 999 1002 ERT +E21 Therapeutic_procedure:T37 +T38 Therapeutic_procedure 1008 1011 SRT +E22 Therapeutic_procedure:T38 +#3 AnnotatorNotes E22 substrate reduction therapy +T39 Medication 1017 1026 miglustat +E23 Medication:T39 +R14 SUB_PROCEDURE Arg1:E23 Arg2:E22 +T40 Medication 1215 1224 miglustat +E24 Medication:T40 +T41 Detailed_description 1229 1282 adjusted according to the patient’s body surface area +R15 MODIFY Arg1:T41 Arg2:E24 +T42 Dosage 1466 1490 100 mg three times daily +T43 Date 1492 1505 after 1 month +E25 Date:T43 +R16 MODIFY Arg1:T42 Arg2:E24 +T44 Therapeutic_procedure 1590 1611 dietary modifications +E26 Therapeutic_procedure:T44 +T45 Date 1507 1526 From 2 weeks before +E27 Date:T45 +T46 Medication 1536 1545 miglustat +E28 Medication:T46 +T47 Detailed_description 1613 1681 avoiding high intake of carbohydrate-containing food in single meals +R17 MODIFY Arg1:T47 Arg2:E26 +T48 Sign_symptom 1836 1844 diarrhea +E29 Sign_symptom:T48 +T49 Severity 1819 1823 mild +R18 MODIFY Arg1:T49 Arg2:E29 +T50 Medication 1862 1871 miglustat +E30 Medication:T50 +T51 Detailed_description 1694 1750 foods high in disaccharides, such as sucrose and maltose +R19 MODIFY Arg1:T51 Arg2:T47 +T52 Lab_value 1887 1928 decreased in frequency/severity over time +R20 MODIFY Arg1:T52 Arg2:E29 +T53 Sign_symptom 2012 2024 splenomegaly +E31 Sign_symptom:T53 +A1 TREND E31 DEC +T54 Diagnostic_procedure 2056 2076 hematological values +E32 Diagnostic_procedure:T54 +T55 Lab_value 2039 2052 normalization +R21 MODIFY Arg1:T55 Arg2:E32 +T56 Diagnostic_procedure 2081 2126 plasma angiotensin-converting enzyme activity +E33 Diagnostic_procedure:T56 +R22 MODIFY Arg1:T55 Arg2:E33 +T57 Diagnostic_procedure 2138 2160 Plasma chitotriosidase +E34 Diagnostic_procedure:T57 +T58 Frequency 2223 2237 every 6 months +R23 MODIFY Arg1:T58 Arg2:E34 +T59 Clinical_event 2245 2254 follow-up +E35 Clinical_event:T59 +T60 Lab_value 2273 2290 initial reduction +T61 Lab_value 2348 2366 sustained decrease +R24 MODIFY Arg1:T60 Arg2:E34 +R25 MODIFY Arg1:T61 Arg2:E34 +T62 Detailed_description 2291 2313 after the start of ERT +T63 Detailed_description 2367 2398 after commencement of miglustat +R26 MODIFY Arg1:T62 Arg2:T60 +R27 MODIFY Arg1:T63 Arg2:T61 +T64 Clinical_event 2439 2447 followed +E36 Clinical_event:T64 +T65 Detailed_description 2448 2490 according to recommended guidelines for GD +R28 MODIFY Arg1:T65 Arg2:E36 +T66 Diagnostic_procedure 2517 2541 neurological examination +E37 Diagnostic_procedure:T66 +T67 Diagnostic_procedure 2552 2582 evaluation of ocular movements +E38 Diagnostic_procedure:T67 +T68 Diagnostic_procedure 2588 2613 psychological evaluations +E39 Diagnostic_procedure:T68 +T69 Frequency 2614 2631 every 6–12 months +R29 MODIFY Arg1:T69 Arg2:E39 +T70 Duration 2644 2651 5 years +E40 Duration:T70 +T71 Therapeutic_procedure 2655 2674 combination therapy +E41 Therapeutic_procedure:T71 +T72 Clinical_event 2679 2688 follow-up +E42 Clinical_event:T72 +R30 MODIFY Arg1:E40 Arg2:E41 +R31 MODIFY Arg1:E40 Arg2:E42 +T73 Sign_symptom 2728 2751 neurological impairment +E43 Sign_symptom:T73 +A2 POLARITY E43 NEG +T74 Date 2759 2772 February 2016 +E44 Date:T74 +T75 Sign_symptom 2799 2815 epileptic crises +E45 Sign_symptom:T75 +A3 POLARITY E45 NEG +T76 Sign_symptom 2837 2857 clinical performance +E46 Sign_symptom:T76 +T77 Activity 2862 2873 cooperation +E47 Activity:T77 +T78 Diagnostic_procedure 2890 2916 muscular tone and trophism +E48 Diagnostic_procedure:T78 +T79 Lab_value 2885 2889 good +R32 MODIFY Arg1:T79 Arg2:E48 +T80 Diagnostic_procedure 2925 2933 reflexes +E49 Diagnostic_procedure:T80 +T81 Lab_value 2918 2924 normal +R33 MODIFY Arg1:T81 Arg2:E49 +T82 Sign_symptom 2948 2961 hyperreflexia +E50 Sign_symptom:T82 +T83 Severity 2941 2947 slight +R34 MODIFY Arg1:T83 Arg2:E50 +T84 Biological_structure 2969 2973 legs +R35 MODIFY Arg1:T84 Arg2:E50 +T85 Diagnostic_procedure 2990 3002 Romberg sign +E51 Diagnostic_procedure:T85 +T86 Lab_value 2981 2989 negative +R36 MODIFY Arg1:T86 Arg2:E51 +T87 Diagnostic_procedure 3008 3033 toe and heel deambulation +E52 Diagnostic_procedure:T87 +T88 Lab_value 3038 3044 normal +R37 MODIFY Arg1:T88 Arg2:E52 +T89 Diagnostic_procedure 3061 3079 ocular evaluations +E53 Diagnostic_procedure:T89 +T90 Sign_symptom 3104 3140 saccadic movement velocity reduction +E54 Sign_symptom:T90 +A4 POLARITY E54 NEG +T91 Diagnostic_procedure 3152 3176 visual evoked potentials +E55 Diagnostic_procedure:T91 +R38 SUB_PROCEDURE Arg1:E55 Arg2:E53 +T92 Lab_value 3145 3151 normal +R39 MODIFY Arg1:T92 Arg2:E55 +T93 Diagnostic_procedure 3192 3216 auditory brain responses +E56 Diagnostic_procedure:T93 +T94 Lab_value 3227 3233 normal +R40 MODIFY Arg1:T94 Arg2:E56 +T95 Sign_symptom 3276 3296 cognitive impairment +E57 Sign_symptom:T95 +A5 POLARITY E57 NEG +T96 Activity 3319 3334 attended school +E58 Activity:T96 +T97 Detailed_description 3340 3356 good performance +R41 MODIFY Arg1:T97 Arg2:E58 +T98 Detailed_description 3309 3318 regularly +R42 MODIFY Arg1:T98 Arg2:E58 +T99 Date 3357 3381 since the age of 5 years +E59 Date:T99 +* OVERLAP E1 E2 E3 +R43 BEFORE Arg1:E3 Arg2:E4 +* OVERLAP E4 E5 E6 E7 E8 E9 E10 E11 E12 E13 E14 E15 E17 E16 +R44 BEFORE Arg1:E16 Arg2:E18 +* OVERLAP E18 E19 +R45 BEFORE Arg1:E19 Arg2:E20 +* OVERLAP E20 E21 E22 +R46 BEFORE Arg1:E22 Arg2:E24 +* OVERLAP E24 E25 +R47 AFTER Arg1:E25 Arg2:E27 +* OVERLAP E27 E28 E26 +R48 BEFORE Arg1:E26 Arg2:E29 +* OVERLAP E29 E30 +R49 BEFORE Arg1:E30 Arg2:E31 +* OVERLAP E31 E32 E33 +R50 AFTER Arg1:E33 Arg2:E34 +R51 BEFORE Arg1:E34 Arg2:E35 +R52 BEFORE Arg1:E35 Arg2:E36 +* OVERLAP E36 E37 E38 E39 +R53 MODIFY Arg1:T69 Arg2:E38 +R54 MODIFY Arg1:T69 Arg2:E37 +R55 BEFORE Arg1:E39 Arg2:E40 +* OVERLAP E40 E41 E42 E43 +R56 BEFORE Arg1:E43 Arg2:E44 +* OVERLAP E44 E45 E46 E47 E48 E49 E50 E51 E52 E53 E54 E56 E57 E58 E59