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1
- [
2
- {
3
- "text_id": "100376",
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- "sentence_id": 1,
5
- "text": "We report a case of a male near-term neonate with gestational age of 35 weeks.",
6
- "relations": []
7
- },
8
- {
9
- "text_id": "100376",
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- "sentence_id": 1,
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- "text": "He was the third born child to a 27-year-old mother with no significant past history.",
12
- "relations": []
13
- },
14
- {
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- "text_id": "100376",
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- "sentence_id": 1,
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- "text": "He was derived from a third degree consanguineous marriage.",
18
- "relations": []
19
- },
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- {
21
- "text_id": "100376",
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- "sentence_id": 1,
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- "text": "He was born by means of normal vaginal delivery with a normal extra-uterine adaptation.",
24
- "relations": []
25
- },
26
- {
27
- "text_id": "100376",
28
- "sentence_id": 1,
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- "text": "Meconium-stained amniotic fluid was noted.",
30
- "relations": []
31
- },
32
- {
33
- "text_id": "100376",
34
- "sentence_id": 1,
35
- "text": "His birth weight was 3030g (75 th Percentile).",
36
- "relations": [
37
- [
38
- "3030g",
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- "weight"
40
- ]
41
- ]
42
- },
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- {
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- "text_id": "100376",
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- "sentence_id": 1,
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- "text": "The baby had normal physical examination at birth aside transitory respiratory distress.",
47
- "relations": []
48
- },
49
- {
50
- "text_id": "100376",
51
- "sentence_id": 1,
52
- "text": "He had been hospitalized for four days in a private clinic, for the suspicion of materno-foetal infection, where he had antibiotics for 48 hours.",
53
- "relations": []
54
- },
55
- {
56
- "text_id": "100376",
57
- "sentence_id": 1,
58
- "text": "He had developed no symptoms during his hospitalization.",
59
- "relations": []
60
- },
61
- {
62
- "text_id": "100376",
63
- "sentence_id": 1,
64
- "text": "The output's weight was 2400g which signify the loss of 630g.",
65
- "relations": [
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- [
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- "2400g",
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- "weight"
69
- ]
70
- ]
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- },
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- {
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- "text_id": "100376",
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- "sentence_id": 1,
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- "text": "Back home, he received exclusive maternal breastfeeding.",
76
- "relations": []
77
- },
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- {
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- "text_id": "100376",
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- "sentence_id": 1,
81
- "text": "On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context.",
82
- "relations": []
83
- },
84
- {
85
- "text_id": "100376",
86
- "sentence_id": 1,
87
- "text": "He had clinical signs of severe dehydration without fever or vomiting.",
88
- "relations": []
89
- },
90
- {
91
- "text_id": "100376",
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- "sentence_id": 1,
93
- "text": "He lost 930g relative to the birth's weight.",
94
- "relations": []
95
- },
96
- {
97
- "text_id": "100376",
98
- "sentence_id": 1,
99
- "text": "The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal.",
100
- "relations": [
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- [
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- "normal",
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- "examination"
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- ]
105
- ]
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- },
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- {
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- "text_id": "100376",
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- "sentence_id": 1,
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- "text": "The laboratory findings revealed hypernatremia of 152mEq/L, hyperkalemia of 7,8mEq/L and severe metabolic acidosis: blood PH: 7,1, HCO3:4mEq/L.",
111
- "relations": [
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- [
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- "152mEq/L",
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- "hypernatremia"
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- ],
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- [
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- "7,8mEq/L",
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- "hyperkalemia"
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- ],
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- [
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- "7,1",
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- "PH"
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- ],
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- [
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- "4mEq/L",
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- "HCO3"
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- ]
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- ]
129
- },
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- {
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- "text_id": "100376",
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- "sentence_id": 1,
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- "text": "The osmotic gap was 45.",
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- "relations": [
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- [
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- "45",
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- "gap"
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- ]
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- ]
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- },
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- {
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- "text_id": "100376",
143
- "sentence_id": 1,
144
- "text": "There was no leukocytosis, and the serum level of C-reactive protein was normal.",
145
- "relations": [
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- [
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- "normal",
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- "level"
149
- ]
150
- ]
151
- },
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- {
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- "text_id": "100376",
154
- "sentence_id": 1,
155
- "text": "The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology.",
156
- "relations": []
157
- },
158
- {
159
- "text_id": "100376",
160
- "sentence_id": 1,
161
- "text": "After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared.",
162
- "relations": []
163
- },
164
- {
165
- "text_id": "100376",
166
- "sentence_id": 1,
167
- "text": "The chest radiograph showed \"bat wings\" pattern and the cardiothoracic index was 0, 45.",
168
- "relations": [
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- [
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- "0, 45",
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- "index"
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- ]
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- ]
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- },
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- {
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- "text_id": "100376",
177
- "sentence_id": 1,
178
- "text": "The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations.",
179
- "relations": []
180
- },
181
- {
182
- "text_id": "100376",
183
- "sentence_id": 1,
184
- "text": "On the 11 th day of life, he was transferred to the pediatric intensive care unit.",
185
- "relations": []
186
- },
187
- {
188
- "text_id": "100376",
189
- "sentence_id": 1,
190
- "text": "He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter.",
191
- "relations": []
192
- },
193
- {
194
- "text_id": "100376",
195
- "sentence_id": 1,
196
- "text": "The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis.",
197
- "relations": []
198
- },
199
- {
200
- "text_id": "100376",
201
- "sentence_id": 1,
202
- "text": "Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day.",
203
- "relations": []
204
- },
205
- {
206
- "text_id": "100376",
207
- "sentence_id": 1,
208
- "text": "He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula.",
209
- "relations": []
210
- },
211
- {
212
- "text_id": "100376",
213
- "sentence_id": 1,
214
- "text": "He was discharged after 32 days with output's weight 3250g.",
215
- "relations": [
216
- [
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- "3250g",
218
- "weight"
219
- ]
220
- ]
221
- },
222
- {
223
- "text_id": "100376",
224
- "sentence_id": 1,
225
- "text": "The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities.",
226
- "relations": []
227
- },
228
- {
229
- "text_id": "100376",
230
- "sentence_id": 1,
231
- "text": "The periodic acid Schiff (PAS) stain revealed abnormalities in the brush border characterized by loss of the linear part of enterocytes with the presence of intra-cytoplasmic PAS + band in the apical pole of enterocytes uneven thickness and sometimes with double contours pattern.",
232
- "relations": []
233
- },
234
- {
235
- "text_id": "100376",
236
- "sentence_id": 1,
237
- "text": "In the submucosa, there were numerous Brunner glands.",
238
- "relations": []
239
- },
240
- {
241
- "text_id": "100376",
242
- "sentence_id": 1,
243
- "text": "We find the existence of numerous hemorrhagic suffusions.",
244
- "relations": [
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- [
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- "positive",
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- "immunostain"
248
- ]
249
- ]
250
- },
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- {
252
- "text_id": "100376",
253
- "sentence_id": 1,
254
- "text": "The CD10 immunostain was positive.",
255
- "relations": []
256
- },
257
- {
258
- "text_id": "100376",
259
- "sentence_id": 1,
260
- "text": "Thus, a diagnosis hypothesis of MVID was raised.",
261
- "relations": []
262
- },
263
- {
264
- "text_id": "100376",
265
- "sentence_id": 1,
266
- "text": "The electron microscopic examination confirmed the diagnosis.",
267
- "relations": []
268
- },
269
- {
270
- "text_id": "100376",
271
- "sentence_id": 1,
272
- "text": "Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene.",
273
- "relations": []
274
- },
275
- {
276
- "text_id": "100376",
277
- "sentence_id": 1,
278
- "text": "The baby died, after 97 days of life, of septic shock and multiple organ failure.",
279
- "relations": []
280
- },
281
- {
282
- "text_id": "100506",
283
- "sentence_id": 1,
284
- "text": "The patient was a 35-year old female who presented with urinary frequency for 2 months.",
285
- "relations": []
286
- },
287
- {
288
- "text_id": "100506",
289
- "sentence_id": 1,
290
- "text": "Her past medical history showed a nonsmoking history and no significant family history.",
291
- "relations": []
292
- },
293
- {
294
- "text_id": "100506",
295
- "sentence_id": 1,
296
- "text": "The physical examination was unremarkable.",
297
- "relations": []
298
- },
299
- {
300
- "text_id": "100506",
301
- "sentence_id": 1,
302
- "text": "She was treated as urinary tract infection, but there was no improvement in her symptoms.",
303
- "relations": []
304
- },
305
- {
306
- "text_id": "100506",
307
- "sentence_id": 1,
308
- "text": "Urine analysis and culture were performed several times that was negative for infection.",
309
- "relations": [
310
- [
311
- "negative",
312
- "infection"
313
- ]
314
- ]
315
- },
316
- {
317
- "text_id": "100506",
318
- "sentence_id": 1,
319
- "text": "Other laboratory data were also insignificant.",
320
- "relations": []
321
- },
322
- {
323
- "text_id": "100506",
324
- "sentence_id": 1,
325
- "text": "Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm.",
326
- "relations": [
327
- [
328
- "7 mm",
329
- "measuring"
330
- ]
331
- ]
332
- },
333
- {
334
- "text_id": "100506",
335
- "sentence_id": 1,
336
- "text": "In order to confirm the diagnosis, magnetic resonance imaging (MRI) of the abdomen and pelvic cavity was done; it revealed a lesion in the dome of the bladder.",
337
- "relations": []
338
- },
339
- {
340
- "text_id": "100506",
341
- "sentence_id": 1,
342
- "text": "To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018.",
343
- "relations": []
344
- },
345
- {
346
- "text_id": "100506",
347
- "sentence_id": 1,
348
- "text": "Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy.",
349
- "relations": []
350
- },
351
- {
352
- "text_id": "100506",
353
- "sentence_id": 1,
354
- "text": "Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers.",
355
- "relations": []
356
- },
357
- {
358
- "text_id": "100506",
359
- "sentence_id": 1,
360
- "text": "Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation.",
361
- "relations": []
362
- },
363
- {
364
- "text_id": "100506",
365
- "sentence_id": 1,
366
- "text": "The patient was transferred to the recovery room with complete stability.",
367
- "relations": []
368
- },
369
- {
370
- "text_id": "100506",
371
- "sentence_id": 1,
372
- "text": "The histopathology slides show a well-defined mass composed of bland looking spindle cells.",
373
- "relations": []
374
- },
375
- {
376
- "text_id": "100506",
377
- "sentence_id": 1,
378
- "text": "Subsequent immunohistochemistry (IHC) was done which showed diffuse immunoreactivity for S100, but other markers including smooth muscle actin (SMA), desmin, cytokeratin, CD34 and beta catenin were negative.",
379
- "relations": [
380
- [
381
- "negative",
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- "markers"
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- ],
384
- [
385
- "negative",
386
- "actin"
387
- ],
388
- [
389
- "negative",
390
- "CD34"
391
- ],
392
- [
393
- "negative",
394
- "desmin"
395
- ],
396
- [
397
- "negative",
398
- "SMA"
399
- ],
400
- [
401
- "negative",
402
- "cytokeratin"
403
- ],
404
- [
405
- "negative",
406
- "catenin"
407
- ],
408
- [
409
- "2-3%",
410
- "Ki67"
411
- ]
412
- ]
413
- },
414
- {
415
- "text_id": "100506",
416
- "sentence_id": 1,
417
- "text": "Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed.",
418
- "relations": []
419
- },
420
- {
421
- "text_id": "100506",
422
- "sentence_id": 1,
423
- "text": "Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal.",
424
- "relations": [
425
- [
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- "normal",
427
- "scans"
428
- ]
429
- ]
430
- },
431
- {
432
- "text_id": "100506",
433
- "sentence_id": 1,
434
- "text": "Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis.",
435
- "relations": []
436
- },
437
- {
438
- "text_id": "100506",
439
- "sentence_id": 1,
440
- "text": "She had no history of neurofibromatosis in her family.",
441
- "relations": []
442
- },
443
- {
444
- "text_id": "100506",
445
- "sentence_id": 1,
446
- "text": "Skin examination was normal and had no café au lait spot.",
447
- "relations": [
448
- [
449
- "normal",
450
- "examination"
451
- ]
452
- ]
453
- },
454
- {
455
- "text_id": "100506",
456
- "sentence_id": 1,
457
- "text": "She was not a case of von Recklinghausen disease.",
458
- "relations": []
459
- },
460
- {
461
- "text_id": "100543",
462
- "sentence_id": 1,
463
- "text": "A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue.",
464
- "relations": [
465
- [
466
- "40°C",
467
- "fever"
468
- ]
469
- ]
470
- },
471
- {
472
- "text_id": "100543",
473
- "sentence_id": 1,
474
- "text": "The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly.",
475
- "relations": []
476
- },
477
- {
478
- "text_id": "100543",
479
- "sentence_id": 1,
480
- "text": "The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³.",
481
- "relations": [
482
- [
483
- "545,000/mm³",
484
- "count"
485
- ],
486
- [
487
- "545,000/mm³",
488
- "WBC"
489
- ]
490
- ]
491
- },
492
- {
493
- "text_id": "100543",
494
- "sentence_id": 1,
495
- "text": "PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³.",
496
- "relations": [
497
- [
498
- "49,050/mm³",
499
- "PNN"
500
- ],
501
- [
502
- "11.6g/dl",
503
- "hemoglobin"
504
- ],
505
- [
506
- "328,000/mm³",
507
- "platelets"
508
- ]
509
- ]
510
- },
511
- {
512
- "text_id": "100543",
513
- "sentence_id": 1,
514
- "text": "The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts.",
515
- "relations": []
516
- },
517
- {
518
- "text_id": "100543",
519
- "sentence_id": 1,
520
- "text": "The analysis of the BCR-ABL shows 94% in the peripheral blood.",
521
- "relations": [
522
- [
523
- "94%",
524
- "BCR-ABL"
525
- ]
526
- ]
527
- },
528
- {
529
- "text_id": "100543",
530
- "sentence_id": 1,
531
- "text": "The patient was diagnosed with CML.",
532
- "relations": []
533
- },
534
- {
535
- "text_id": "100543",
536
- "sentence_id": 1,
537
- "text": "She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day.",
538
- "relations": []
539
- },
540
- {
541
- "text_id": "100543",
542
- "sentence_id": 1,
543
- "text": "Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months.",
544
- "relations": []
545
- },
546
- {
547
- "text_id": "100543",
548
- "sentence_id": 1,
549
- "text": "The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days.",
550
- "relations": []
551
- },
552
- {
553
- "text_id": "100543",
554
- "sentence_id": 1,
555
- "text": "On examination, patient was afebrile and appeared pale.",
556
- "relations": []
557
- },
558
- {
559
- "text_id": "100543",
560
- "sentence_id": 1,
561
- "text": "Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute.",
562
- "relations": [
563
- [
564
- "100/60mm/hg",
565
- "pressure"
566
- ],
567
- [
568
- "98 beat/minute",
569
- "rate"
570
- ]
571
- ]
572
- },
573
- {
574
- "text_id": "100543",
575
- "sentence_id": 1,
576
- "text": "There was no lymphadenopathy and the nervous system examination was normal.",
577
- "relations": [
578
- [
579
- "normal",
580
- "examination"
581
- ]
582
- ]
583
- },
584
- {
585
- "text_id": "100543",
586
- "sentence_id": 1,
587
- "text": "Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes.",
588
- "relations": [
589
- [
590
- "normal",
591
- "testing"
592
- ]
593
- ]
594
- },
595
- {
596
- "text_id": "100543",
597
- "sentence_id": 1,
598
- "text": "The pupil was sluggish to react to light.",
599
- "relations": []
600
- },
601
- {
602
- "text_id": "100543",
603
- "sentence_id": 1,
604
- "text": "Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina.",
605
- "relations": []
606
- },
607
- {
608
- "text_id": "100543",
609
- "sentence_id": 1,
610
- "text": "She underwent a brain computed tomography (CT) scan with the suspicion of leukemic involvement or any other intracranial event (cerebral edema); however, nothing was found.",
611
- "relations": []
612
- },
613
- {
614
- "text_id": "100543",
615
- "sentence_id": 1,
616
- "text": "A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia.",
617
- "relations": []
618
- },
619
- {
620
- "text_id": "100543",
621
- "sentence_id": 1,
622
- "text": "Cytological evaluation of cerebrospinal fluid (CSF) was also negative.",
623
- "relations": [
624
- [
625
- "negative",
626
- "evaluation"
627
- ]
628
- ]
629
- },
630
- {
631
- "text_id": "100543",
632
- "sentence_id": 1,
633
- "text": "The patient had no other known pathology that could be held responsible for retina edema.",
634
- "relations": []
635
- },
636
- {
637
- "text_id": "100543",
638
- "sentence_id": 1,
639
- "text": "We suggested that it was a side effect of imatinib so its administration was temporary interrupted.",
640
- "relations": []
641
- },
642
- {
643
- "text_id": "100543",
644
- "sentence_id": 1,
645
- "text": "The patient was put on an anti-edema therapy (mannitol, dexamethasone).",
646
- "relations": []
647
- },
648
- {
649
- "text_id": "100543",
650
- "sentence_id": 1,
651
- "text": "However, few months later, the patient presented in the emergency room with a headache and severe vomiting.",
652
- "relations": []
653
- },
654
- {
655
- "text_id": "100543",
656
- "sentence_id": 1,
657
- "text": "She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures.",
658
- "relations": []
659
- },
660
- {
661
- "text_id": "100543",
662
- "sentence_id": 1,
663
- "text": "Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia.",
664
- "relations": []
665
- },
666
- {
667
- "text_id": "100543",
668
- "sentence_id": 1,
669
- "text": "CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes.",
670
- "relations": []
671
- },
672
- {
673
- "text_id": "100543",
674
- "sentence_id": 1,
675
- "text": "Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml.",
676
- "relations": [
677
- [
678
- "11000cells/ml",
679
- "lymphoblasts"
680
- ],
681
- [
682
- "11000cells/ml",
683
- "count"
684
- ]
685
- ]
686
- },
687
- {
688
- "text_id": "100543",
689
- "sentence_id": 1,
690
- "text": "Flow cytometry of the CSF showed that blast cells were positive for a cluster of differentiation markers (CD) (CD34, CD19, CD10, CD22 and partially positive for CD45) confirming CNS extramedullary lymphoid blast infiltration.",
691
- "relations": [
692
- [
693
- "positive",
694
- "markers"
695
- ],
696
- [
697
- "partially positive",
698
- "CD45"
699
- ]
700
- ]
701
- },
702
- {
703
- "text_id": "100543",
704
- "sentence_id": 1,
705
- "text": "A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase.",
706
- "relations": []
707
- },
708
- {
709
- "text_id": "100543",
710
- "sentence_id": 1,
711
- "text": "Fundus examination showed bilateral optic atrophy.",
712
- "relations": []
713
- },
714
- {
715
- "text_id": "100543",
716
- "sentence_id": 1,
717
- "text": "The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry).",
718
- "relations": []
719
- },
720
- {
721
- "text_id": "100543",
722
- "sentence_id": 1,
723
- "text": "The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone).",
724
- "relations": []
725
- },
726
- {
727
- "text_id": "100543",
728
- "sentence_id": 1,
729
- "text": "The imatinib was replaced by dasatinib at the dose of 100 mg per day.",
730
- "relations": []
731
- },
732
- {
733
- "text_id": "100543",
734
- "sentence_id": 1,
735
- "text": "She was treated with 24 Gy of whole-brain radiation therapy.",
736
- "relations": []
737
- },
738
- {
739
- "text_id": "100543",
740
- "sentence_id": 1,
741
- "text": "Allogenic stem cell transplantation was not feasible.",
742
- "relations": []
743
- },
744
- {
745
- "text_id": "100543",
746
- "sentence_id": 1,
747
- "text": "We noticed a rapidly progressive amelioration in her neurological status after finishing systemic chemotherapy and physical therapy; however, the patient's visual loss showed no signs of improvement.",
748
- "relations": []
749
- },
750
- {
751
- "text_id": "108798",
752
- "sentence_id": 1,
753
- "text": "We report a case of a 63-year-old woman with a minute ampullary carcinoid tumor that was 7 mm in diameter, but was associated with 2 peripancreatic lymph node metastases.",
754
- "relations": [
755
- [
756
- "7 mm",
757
- "diameter"
758
- ]
759
- ]
760
- },
761
- {
762
- "text_id": "108798",
763
- "sentence_id": 1,
764
- "text": "Mild elevation of liver enzymes was found at her regular medical check-up.",
765
- "relations": []
766
- },
767
- {
768
- "text_id": "108798",
769
- "sentence_id": 1,
770
- "text": "Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes.",
771
- "relations": []
772
- },
773
- {
774
- "text_id": "108798",
775
- "sentence_id": 1,
776
- "text": "Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor.",
777
- "relations": []
778
- },
779
- {
780
- "text_id": "108798",
781
- "sentence_id": 1,
782
- "text": "The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor.",
783
- "relations": []
784
- },
785
- {
786
- "text_id": "108798",
787
- "sentence_id": 1,
788
- "text": "She underwent a pylorus-preserving whipple resection with lymph node dissection.",
789
- "relations": []
790
- },
791
- {
792
- "text_id": "108798",
793
- "sentence_id": 1,
794
- "text": "The resected lesion was a small submucosal tumor (7 mm in diameter) at the ampulla, with metastasis to 2 peripancreatic lymph nodes, and it was diagnosed as a malignant carcinoid tumor.",
795
- "relations": [
796
- [
797
- "7 mm in diameter",
798
- "tumor"
799
- ]
800
- ]
801
- },
802
- {
803
- "text_id": "101318",
804
- "sentence_id": 1,
805
- "text": "We observed a 29 y.o. female proband with the episode of venous thrombosis at the age of 18 and family history of thrombosis.",
806
- "relations": []
807
- },
808
- {
809
- "text_id": "101318",
810
- "sentence_id": 1,
811
- "text": "The antithrombin level in our patient was low, 44-48% (AT deficiency type I).",
812
- "relations": [
813
- [
814
- "low",
815
- "level"
816
- ],
817
- [
818
- "44-48%",
819
- "level"
820
- ]
821
- ]
822
- },
823
- {
824
- "text_id": "101318",
825
- "sentence_id": 1,
826
- "text": "A new genetic variant c.662G > C (p.W221S) in the SERPINC1 gene was detected in proband and affected father but was absent in healthy sister.",
827
- "relations": []
828
- },
829
- {
830
- "text_id": "101318",
831
- "sentence_id": 1,
832
- "text": "We used in silico tools to evaluate the possible impact of p.W221S variant on protein structure and function.",
833
- "relations": []
834
- },
835
- {
836
- "text_id": "101318",
837
- "sentence_id": 1,
838
- "text": "In mutated SERPINC1 protein a new N-linked glycosylation site is formed, however, it is unclear if the glycosylation at 219-221 site is possible.",
839
- "relations": []
840
- }
841
- ]