[ { "text_id": "100376", "sentence_id": 1, "text": "We report a case of a male near-term neonate with gestational age of 35 weeks.", "relations": [] }, { "text_id": "100376", "sentence_id": 2, "text": "He was the third born child to a 27-year-old mother with no significant past history.", "relations": [] }, { "text_id": "100376", "sentence_id": 3, "text": "He was derived from a third degree consanguineous marriage.", "relations": [] }, { "text_id": "100376", "sentence_id": 4, "text": "He was born by means of normal vaginal delivery with a normal extra-uterine adaptation.", "relations": [] }, { "text_id": "100376", "sentence_id": 5, "text": "Meconium-stained amniotic fluid was noted.", "relations": [] }, { "text_id": "100376", "sentence_id": 6, "text": "His birth weight was 3030g (75 th Percentile).", "relations": [ [ "3030g", "weight" ] ] }, { "text_id": "100376", "sentence_id": 7, "text": "The baby had normal physical examination at birth aside transitory respiratory distress.", "relations": [] }, { "text_id": "100376", "sentence_id": 8, "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.", "relations": [] }, { "text_id": "100376", "sentence_id": 9, "text": "He had developed no symptoms during his hospitalization.", "relations": [] }, { "text_id": "100376", "sentence_id": 10, "text": "The output's weight was 2400g which signify the loss of 630g.", "relations": [ [ "2400g", "weight" ] ] }, { "text_id": "100376", "sentence_id": 11, "text": "Back home, he received exclusive maternal breastfeeding.", "relations": [] }, { "text_id": "100376", "sentence_id": 12, "text": "On his fifth day of life, he presented multiple yellowish-watery stools (ab 12 times) and refuse feeding with apyrexia context.", "relations": [] }, { "text_id": "100376", "sentence_id": 13, "text": "He had clinical signs of severe dehydration without fever or vomiting.", "relations": [] }, { "text_id": "100376", "sentence_id": 14, "text": "He lost 930g relative to the birth's weight.", "relations": [] }, { "text_id": "100376", "sentence_id": 15, "text": "The abdomen appeared neither tender nor distended, and the rest of his physical examination was normal.", "relations": [ [ "normal", "examination" ] ] }, { "text_id": "100376", "sentence_id": 16, "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.", "relations": [ [ "152mEq/L", "hypernatremia" ], [ "7,8mEq/L", "hyperkalemia" ], [ "7,1", "PH" ], [ "4mEq/L", "HCO3" ] ] }, { "text_id": "100376", "sentence_id": 17, "text": "The osmotic gap was 45.", "relations": [ [ "45", "gap" ] ] }, { "text_id": "100376", "sentence_id": 18, "text": "There was no leukocytosis, and the serum level of C-reactive protein was normal.", "relations": [ [ "normal", "level" ] ] }, { "text_id": "100376", "sentence_id": 19, "text": "The infant was treated with intravenous fluids and electrolytes as well as antibiotics after obtaining blood and stool cultures, assuming an infectious etiology.", "relations": [] }, { "text_id": "100376", "sentence_id": 20, "text": "After 26 hours of rehydration therapy, the dehydration resolved, however, a functional acute renal failure complicated by acidosis and hyperkalemia appeared.", "relations": [] }, { "text_id": "100376", "sentence_id": 21, "text": "The chest radiograph showed \"bat wings\" pattern and the cardiothoracic index was 0, 45.", "relations": [ [ "0, 45", "index" ] ] }, { "text_id": "100376", "sentence_id": 22, "text": "The renal ultrasound showed discretely hyperechoic kidneys cortex and the absence of renal malformations.", "relations": [] }, { "text_id": "100376", "sentence_id": 23, "text": "On the 11 th day of life, he was transferred to the pediatric intensive care unit.", "relations": [] }, { "text_id": "100376", "sentence_id": 24, "text": "He needed mechanical ventilation for three days and exclusive parenteral feeding by central catheter.", "relations": [] }, { "text_id": "100376", "sentence_id": 25, "text": "The evolution was burdened by cholestasis due to the prolonged parenteral feeding and nosocomial infection by staphylococcus epidermidis.", "relations": [] }, { "text_id": "100376", "sentence_id": 26, "text": "Since his admission, he had developed a slimy diarrhea with 3 to 4 stools per day.", "relations": [] }, { "text_id": "100376", "sentence_id": 27, "text": "He presented a profuse diarrhea during each attempt to introduce enteral feeding by hydrolyzed milk formula.", "relations": [] }, { "text_id": "100376", "sentence_id": 28, "text": "He was discharged after 32 days with output's weight 3250g.", "relations": [ [ "3250g", "weight" ] ] }, { "text_id": "100376", "sentence_id": 29, "text": "The oesophago-gastro-duodenoscopy and duodenal biopsy showed partial villous atrophy associated to the brush border abnormalities.", "relations": [] }, { "text_id": "100376", "sentence_id": 30, "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.", "relations": [] }, { "text_id": "100376", "sentence_id": 31, "text": "In the submucosa, there were numerous Brunner glands.", "relations": [] }, { "text_id": "100376", "sentence_id": 32, "text": "We find the existence of numerous hemorrhagic suffusions.", "relations": [ [ "positive", "immunostain" ] ] }, { "text_id": "100376", "sentence_id": 33, "text": "The CD10 immunostain was positive.", "relations": [] }, { "text_id": "100376", "sentence_id": 34, "text": "Thus, a diagnosis hypothesis of MVID was raised.", "relations": [] }, { "text_id": "100376", "sentence_id": 35, "text": "The electron microscopic examination confirmed the diagnosis.", "relations": [] }, { "text_id": "100376", "sentence_id": 36, "text": "Mutation analysis of peripheral blood samples of the neonate revealed a mutation at the homozygous status of MYO5B gene.", "relations": [] }, { "text_id": "100376", "sentence_id": 37, "text": "The baby died, after 97 days of life, of septic shock and multiple organ failure.", "relations": [] }, { "text_id": "100506", "sentence_id": 1, "text": "The patient was a 35-year old female who presented with urinary frequency for 2 months.", "relations": [] }, { "text_id": "100506", "sentence_id": 2, "text": "Her past medical history showed a nonsmoking history and no significant family history.", "relations": [] }, { "text_id": "100506", "sentence_id": 3, "text": "The physical examination was unremarkable.", "relations": [] }, { "text_id": "100506", "sentence_id": 4, "text": "She was treated as urinary tract infection, but there was no improvement in her symptoms.", "relations": [] }, { "text_id": "100506", "sentence_id": 5, "text": "Urine analysis and culture were performed several times that was negative for infection.", "relations": [ [ "negative", "infection" ] ] }, { "text_id": "100506", "sentence_id": 6, "text": "Other laboratory data were also insignificant.", "relations": [] }, { "text_id": "100506", "sentence_id": 7, "text": "Through a routine evaluation, urinary system ultrasonography (US) revealed a bladder lesion measuring 7 mm.", "relations": [ [ "7 mm", "measuring" ] ] }, { "text_id": "100506", "sentence_id": 8, "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.", "relations": [] }, { "text_id": "100506", "sentence_id": 9, "text": "To confirm the diagnosis and for histopathological examination, the patient underwent Transurethral Resection of Bladder Tumor (TURBT) in April 2018.", "relations": [] }, { "text_id": "100506", "sentence_id": 10, "text": "Before starting the procedure, the urethra was dilated till Fr: 28; at first, the tumor location was specified by cystoscopy.", "relations": [] }, { "text_id": "100506", "sentence_id": 11, "text": "Then, it was resected by monopolar cautery from superficial to deeper parts with removal of the muscle layers.", "relations": [] }, { "text_id": "100506", "sentence_id": 12, "text": "Proper bleeders were taken and three way Foley catheter was applied for a continuous irrigation.", "relations": [] }, { "text_id": "100506", "sentence_id": 13, "text": "The patient was transferred to the recovery room with complete stability.", "relations": [] }, { "text_id": "100506", "sentence_id": 14, "text": "The histopathology slides show a well-defined mass composed of bland looking spindle cells.", "relations": [] }, { "text_id": "100506", "sentence_id": 15, "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.", "relations": [ [ "negative", "markers" ], [ "negative", "actin" ], [ "negative", "CD34" ], [ "negative", "desmin" ], [ "negative", "SMA" ], [ "negative", "cytokeratin" ], [ "negative", "catenin" ], [ "2-3%", "Ki67" ] ] }, { "text_id": "100506", "sentence_id": 16, "text": "Ki67 was 2-3%, so the diagnosis of schwannoma was confirmed.", "relations": [] }, { "text_id": "100506", "sentence_id": 17, "text": "Then, the neck, abdomen, pelvic and chest computed tomography (CT) scans were done that were normal.", "relations": [ [ "normal", "scans" ] ] }, { "text_id": "100506", "sentence_id": 18, "text": "Brain and spine MRI and physical examination showed no evidence of other schwannoma or evidence of neurofibromatosis.", "relations": [] }, { "text_id": "100506", "sentence_id": 19, "text": "She had no history of neurofibromatosis in her family.", "relations": [] }, { "text_id": "100506", "sentence_id": 20, "text": "Skin examination was normal and had no café au lait spot.", "relations": [ [ "normal", "examination" ] ] }, { "text_id": "100506", "sentence_id": 21, "text": "She was not a case of von Recklinghausen disease.", "relations": [] }, { "text_id": "100543", "sentence_id": 1, "text": "A 12-year-old girl presented an abdominal pain, high persistent fever of (40°C) and severe fatigue.", "relations": [ [ "40°C", "fever" ] ] }, { "text_id": "100543", "sentence_id": 2, "text": "The physical exam revealed pallor, hepatomegaly, and grade III splenomegaly.", "relations": [] }, { "text_id": "100543", "sentence_id": 3, "text": "The investigation revealed an elevated white blood cell count (WBC): 545,000/mm³.", "relations": [ [ "545,000/mm³", "count" ], [ "545,000/mm³", "WBC" ] ] }, { "text_id": "100543", "sentence_id": 4, "text": "PNN: 49,050/mm³, hemoglobin: 11.6g/dl, platelets: 328,000/mm³.", "relations": [ [ "49,050/mm³", "PNN" ], [ "11.6g/dl", "hemoglobin" ], [ "328,000/mm³", "platelets" ] ] }, { "text_id": "100543", "sentence_id": 5, "text": "The patient's peripheral blood smear revealed marked leukocytosis with a significant number of immature myeloid precursors and 21% blasts.", "relations": [] }, { "text_id": "100543", "sentence_id": 6, "text": "The analysis of the BCR-ABL shows 94% in the peripheral blood.", "relations": [ [ "94%", "BCR-ABL" ] ] }, { "text_id": "100543", "sentence_id": 7, "text": "The patient was diagnosed with CML.", "relations": [] }, { "text_id": "100543", "sentence_id": 8, "text": "She received a chemotherapy protocol made of hyperalkalinisation, allopurinol, hydroxyurea and a treatment based on imatinib at the dose of 400mg per day.", "relations": [] }, { "text_id": "100543", "sentence_id": 9, "text": "Patient achieved complete hematological remission at three months and complete cytogenetic remission at 12 months.", "relations": [] }, { "text_id": "100543", "sentence_id": 10, "text": "The patient was readmitted into our pediatric department with complains of severe headache, vomiting, pain and bilateral visual loss since three days.", "relations": [] }, { "text_id": "100543", "sentence_id": 11, "text": "On examination, patient was afebrile and appeared pale.", "relations": [] }, { "text_id": "100543", "sentence_id": 12, "text": "Blood pressure was 100/60mm/hg and the heart rate 98 beat/minute.", "relations": [ [ "100/60mm/hg", "pressure" ], [ "98 beat/minute", "rate" ] ] }, { "text_id": "100543", "sentence_id": 13, "text": "There was no lymphadenopathy and the nervous system examination was normal.", "relations": [ [ "normal", "examination" ] ] }, { "text_id": "100543", "sentence_id": 14, "text": "Intraocular muscle testing was normal; however, there was an exophthalmia in both eyes.", "relations": [ [ "normal", "testing" ] ] }, { "text_id": "100543", "sentence_id": 15, "text": "The pupil was sluggish to react to light.", "relations": [] }, { "text_id": "100543", "sentence_id": 16, "text": "Fundoscopy revealed bilateral stade III disc edema and hemorrhages of the retina.", "relations": [] }, { "text_id": "100543", "sentence_id": 17, "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.", "relations": [] }, { "text_id": "100543", "sentence_id": 18, "text": "A subsequent bone marrow exam showed no morphologic or molecular evidence of CML or acute leukemia.", "relations": [] }, { "text_id": "100543", "sentence_id": 19, "text": "Cytological evaluation of cerebrospinal fluid (CSF) was also negative.", "relations": [ [ "negative", "evaluation" ] ] }, { "text_id": "100543", "sentence_id": 20, "text": "The patient had no other known pathology that could be held responsible for retina edema.", "relations": [] }, { "text_id": "100543", "sentence_id": 21, "text": "We suggested that it was a side effect of imatinib so its administration was temporary interrupted.", "relations": [] }, { "text_id": "100543", "sentence_id": 22, "text": "The patient was put on an anti-edema therapy (mannitol, dexamethasone).", "relations": [] }, { "text_id": "100543", "sentence_id": 23, "text": "However, few months later, the patient presented in the emergency room with a headache and severe vomiting.", "relations": [] }, { "text_id": "100543", "sentence_id": 24, "text": "She described a recurrence of the same character of headaches accompanied with weakness of extremities and seizures.", "relations": [] }, { "text_id": "100543", "sentence_id": 25, "text": "Nervous system examination revealed neck rigidity, presence of meningeal signs and lower limb paraplegia.", "relations": [] }, { "text_id": "100543", "sentence_id": 26, "text": "CT of the brain revealed subdural chronic hematoma and a serpenginous gyriform enhancement around the contusion in the right parietal and occipital lobes.", "relations": [] }, { "text_id": "100543", "sentence_id": 27, "text": "Analysis of the CSF collected showed lymphoblasts in a WBC count of 11000cells/ml.", "relations": [ [ "11000cells/ml", "lymphoblasts" ], [ "11000cells/ml", "count" ] ] }, { "text_id": "100543", "sentence_id": 28, "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.", "relations": [ [ "positive", "markers" ], [ "partially positive", "CD45" ] ] }, { "text_id": "100543", "sentence_id": 29, "text": "A bone marrow aspiration was done to evaluate the status of her chronic myelogenous leukemia and result was consistent with a chronic phase.", "relations": [] }, { "text_id": "100543", "sentence_id": 30, "text": "Fundus examination showed bilateral optic atrophy.", "relations": [] }, { "text_id": "100543", "sentence_id": 31, "text": "The diagnosis of extramedullary isolated CNS blast crises (lymphoid type) was based on the presence of blasts in CSF (confirmed by flow cytometry).", "relations": [] }, { "text_id": "100543", "sentence_id": 32, "text": "The patient received a high-dose systemic induction chemotherapy and intrathecal therapy (methotrexate, arabinoside and dexamethasone).", "relations": [] }, { "text_id": "100543", "sentence_id": 33, "text": "The imatinib was replaced by dasatinib at the dose of 100 mg per day.", "relations": [] }, { "text_id": "100543", "sentence_id": 34, "text": "She was treated with 24 Gy of whole-brain radiation therapy.", "relations": [] }, { "text_id": "100543", "sentence_id": 35, "text": "Allogenic stem cell transplantation was not feasible.", "relations": [] }, { "text_id": "100543", "sentence_id": 36, "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.", "relations": [] }, { "text_id": "108798", "sentence_id": 1, "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.", "relations": [ [ "7 mm", "diameter" ] ] }, { "text_id": "108798", "sentence_id": 2, "text": "Mild elevation of liver enzymes was found at her regular medical check-up.", "relations": [] }, { "text_id": "108798", "sentence_id": 3, "text": "Computed tomography (CT) revealed a markedly dilated common bile duct (CBD) and two enlarged peripancreatic lymph nodes.", "relations": [] }, { "text_id": "108798", "sentence_id": 4, "text": "Endoscopy showed that the ampulla was slightly enlarged by a submucosal tumor.", "relations": [] }, { "text_id": "108798", "sentence_id": 5, "text": "The biopsy specimen revealed tumor cells that showed monotonous proliferation suggestive of a carcinoid tumor.", "relations": [] }, { "text_id": "108798", "sentence_id": 6, "text": "She underwent a pylorus-preserving whipple resection with lymph node dissection.", "relations": [] }, { "text_id": "108798", "sentence_id": 7, "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.", "relations": [ [ "7 mm in diameter", "tumor" ] ] }, { "text_id": "101318", "sentence_id": 1, "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.", "relations": [] }, { "text_id": "101318", "sentence_id": 2, "text": "The antithrombin level in our patient was low, 44-48% (AT deficiency type I).", "relations": [ [ "low", "level" ], [ "44-48%", "level" ] ] }, { "text_id": "101318", "sentence_id": 3, "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.", "relations": [] }, { "text_id": "101318", "sentence_id": 4, "text": "We used in silico tools to evaluate the possible impact of p.W221S variant on protein structure and function.", "relations": [] }, { "text_id": "101318", "sentence_id": 5, "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.", "relations": [] } ]